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Gene: Tlr7 MGI:2176882

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-like receptor 7
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlr7 mutations

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

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

The table below shows human diseases associated to Tlr7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic Lupus Erythematosus 17
Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukopenia, Anti... OMIM:301080
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Pyuria, Leukopenia, Malar rash, Anti-Sm a... ORPHA:536
Immunodeficiency 74, Covid19-Related, X-Linked
OMIM:301051

The table below shows human diseases predicted to be associated to Tlr7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi... ORPHA:444463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Celiac disease, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antin... OMIM:619375
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Abscess, Nephrotic syndrome, Granul... OMIM:618935
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... OMIM:618986
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Decreased specific pneumococcal antibody l... OMIM:617006
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... OMIM:613493
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent respiratory infections... OMIM:300853
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Autoimmunity, Decreased circu... ORPHA:397596
Immune Thrombocytopenia
Thrombocytopenia, Platelet antibody positive OMIM:188030
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Lymphoma, Impaired T... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal ... ORPHA:449395
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,... OMIM:607594
Whim Syndrome
Lymphadenitis, Lymphopenia, Neutropenia, Cutaneous melanoma, Tetralogy of Fallot, Otitis media, P... ORPHA:51636
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Hemolytic anemia, Splenom... OMIM:614470
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Antinuclear antibody ... OMIM:152700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia,... ORPHA:3261
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Hyper-Igd Syndrome
Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl... OMIM:260920
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de... OMIM:615895
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... OMIM:300400
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Cardiomegaly, Proteinuria, Congenital thrombocy... OMIM:618886
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:612692
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Thrombocytosis, ... OMIM:209950
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, Decreased circulating antibody level, Thrombocytopenia, B lymphocytope... ORPHA:169079
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Macrophage Activation Syndrome
Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con... ORPHA:158061
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, I... OMIM:615513
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos... ORPHA:60026
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted ... ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin... ORPHA:277
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Lympho... OMIM:617575
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrh... ORPHA:99931
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Recurrent bronchiolitis, B-cell... OMIM:619164
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ... ORPHA:31205
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Atelect... OMIM:306400
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Neoplasm, ... ORPHA:47
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Au... OMIM:618495
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal... ORPHA:549
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... ORPHA:572
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Thymoma
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... ORPHA:99867
Cystic Echinococcosis
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Abscess, Elevated c... ORPHA:400
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Increased circulating IgG4 level... ORPHA:449427
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto... ORPHA:79312
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Hodgkin lymp... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmuni... ORPHA:229717
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:618394
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:619281
Lymphatic Filariasis
Urethral obstruction, Abnormal lung morphology, Lymphadenitis, Hypereosinophilia, Abnormality of ... ORPHA:2035
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Autoimm... ORPHA:228426
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 15A
Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou... OMIM:618204
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autoimmune Polyendocrinopathy Type 4
Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe... ORPHA:227990
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Autoimmunity, Inflammatory ... ORPHA:611
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothy... OMIM:618999
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Skeletal muscle atrophy, Eczematoid d... OMIM:620632
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Pancreatitis, Thrombo... ORPHA:27
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent respirator... OMIM:615816
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi... ORPHA:227982
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig... OMIM:615577
Autosomal Agammaglobulinemia
Bronchiectasis, Verrucae, Hepatitis, Diarrhea, Recurrent respiratory infections, Osteomyelitis, S... ORPHA:33110
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Verrucae, Increased circulating IgE level, Squamous cell carcinoma ... ORPHA:217390
Omenn Syndrome
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, An... ORPHA:39041
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Thrombocytopenia, Neutropen... ORPHA:289916
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal intestine morphology, Neutr... ORPHA:1830
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Hyper... ORPHA:562639
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Systemic Capillary Leak Syndrome
Diarrhea, Oliguria, Leukocytosis, Renal insufficiency, Pleural effusion, Pulmonary edema, Abnorma... ORPHA:188
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Autoimmunity, Dec... ORPHA:83471
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ... OMIM:618805
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Immunodeficiency 98 With Autoinflammation, X-Linked
Antineutrophil antibody positivity, Bone marrow hypocellularity, Decreased circulating IgG level,... OMIM:301078
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Myeloma, Multiple
Paraproteinemia OMIM:254500
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Systemic Lupus Erythematosus 17
Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukopenia, Anti... OMIM:301080
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Bronchitis, Ch... ORPHA:60
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity OMIM:182410
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Multiple myeloma, Gast... ORPHA:91139
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp... OMIM:601457
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Autoimmunity, Hypereosinophilia, Splenomegaly, Autoimmune hemol... OMIM:615387
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Propionic Acidemia
Hyperglycinuria, Vomiting, Eczematoid dermatitis, Increased level of hippuric acid in urine, Card... OMIM:606054
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphoma, Recurrent respirato... ORPHA:1572
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... OMIM:619386
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... ORPHA:39812
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... OMIM:616414
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney di... OMIM:251000
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Nocardiosis
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, O... ORPHA:31204
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Hypersplenism, Autoimmunity, Pancytopenia, Splenomegaly, Port... OMIM:613385
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci... ORPHA:319218
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Diarrhea, Periodontitis, Aplastic anemia, Lymphope... ORPHA:486
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, In... OMIM:612783
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Ane... OMIM:226990
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ... ORPHA:565612
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Myopathy, Polycystic ovaries, Glome... ORPHA:2348
Neonatal Alloimmune Neutropenia
Pneumonia, Antineutrophil antibody positivity, Jaundice, Neutropenia in presence of anti-neutropi... ORPHA:464370
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Avian Influenza
Pneumonia, Myelitis, Diarrhea, Vomiting, Hepatitis, Acute kidney injury, Increased circulating la... ORPHA:454836
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, ... ORPHA:470
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... ORPHA:480520
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopi... ORPHA:79087
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie... ORPHA:36234
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... ORPHA:90060
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upp... OMIM:613179
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Systemic lupus erythematosus, Leuko... OMIM:616871
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T... ORPHA:673
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased circula... OMIM:615758
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy ORPHA:52416
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Cach Syndrome
Renal hypoplasia, Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia, Flexion ... ORPHA:135
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Chylous Ascites
Ascites, Neoplasm, Pancreatitis, Abnormal intestine morphology ORPHA:1160
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,... ORPHA:292
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Myocar... ORPHA:3260
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Myopathy, Polycystic ovaries, Cirrh... ORPHA:79083
Familial Mediterranean Fever
Nephropathy, Diarrhea, Acute hepatic failure, Intestinal obstruction, Nephrotic syndrome, Erysipe... ORPHA:342
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Extractable nuclear antigen ... OMIM:620321
Schnitzler Syndrome
Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly... ORPHA:37748
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent urinary tract infections, Recurrent otitis ... OMIM:307200
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... OMIM:613812
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po... ORPHA:70593
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Aicardi-Goutieres Syndrome 6
Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal... OMIM:615010
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased ... ORPHA:1855
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho... OMIM:615518
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... OMIM:617780
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Microscopic Polyangiitis
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Oliguria, Autoimmunity, Episcleritis, Skin rash, ... ORPHA:727
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, Hemolytic an... OMIM:616744
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Pyuria, Leukopenia, Malar rash, Anti-Sm a... ORPHA:536
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Verrucae, Recurrent upper respiratory tract infections, Chronic mucocutaneou... OMIM:614868
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ... OMIM:613501
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematur... ORPHA:91138
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Glomer... OMIM:619487
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Zygomycosis
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endo... ORPHA:73263
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Neoplasm, Splenomegaly, Myopathy, Lymphadenopathy, Thrombocytopenia, Anh... ORPHA:169090
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Partial absence... OMIM:618108
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Prostatitis, Abnormality of the anterior pituitary, Abnormality ... ORPHA:449563
Classic Mycosis Fungoides
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,... ORPHA:2584
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Abnormal circulating lactate dehydrogenase concentration, Autoimmuni... ORPHA:98827
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen... OMIM:618398
Leishmaniasis
Hypoalbuminemia, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increase... ORPHA:507
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Lupus anticoagulant, Antinuclear antibody pos... ORPHA:231111
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Elevated circulating h... OMIM:607765
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prol... ORPHA:499009
Porphyria Cutanea Tarda
Periportal fibrosis, Increased circulating iron concentration, Portal inflammation, Cutaneous abs... ORPHA:101330
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, El... OMIM:208085
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehydrogenase concentrat... ORPHA:370348
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Verrucae, Recurrent aphthous stomatitis, Autoimmunity, Decreased... ORPHA:275
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re... ORPHA:676
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Skeletal muscle atrophy, Hemophagocytosis, Vomiting, Int... OMIM:222700
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno... ORPHA:2585
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Granulomatosis With Polyangiitis
Intestinal obstruction, Hematuria, Prostatitis, Inflammatory abnormality of the eye, Chronic otit... ORPHA:900
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Erythrod... OMIM:603554
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopath... ORPHA:100025
Pediatric Systemic Lupus Erythematosus
Diarrhea, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urin... ORPHA:93552
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Sézary Syndrome
Neoplasm of the skin, Skeletal muscle atrophy, Lymphoma, Abnormal lymphocyte morphology, Abnormal... ORPHA:3162
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... ORPHA:169154
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Bronchiectasis, Lymphoma, Decreased proportion of CD4-positive T cells ORPHA:477814
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pers... ORPHA:231226
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem... ORPHA:79124
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album... ORPHA:90291
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Angulated muscle fibers, Aspiration pneumonia, Weakness of facia... OMIM:619477
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear an... OMIM:617388
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Abnormality of the kidne... ORPHA:228123
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis... ORPHA:85414
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent... OMIM:610199
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Abnormal pancreas morpho... ORPHA:139507
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hyperhidrosis, Hepatomegaly, Breast car... ORPHA:86893
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... ORPHA:398124
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Hepatosplenomegaly, Psoriasiform dermatitis, Decreased CD4:CD8 r... OMIM:606367
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Hematuria, Hepatomegaly, Inflammatory abnormality of the eye, Ascites, Renal insufficie... ORPHA:36412
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Prolidase Deficiency
Systemic lupus erythematosus, Splenomegaly, Increased circulating antibody level, Prolonged neona... OMIM:170100
Fusariosis
Abnormality of the spleen, Lymphopenia, Hematological neoplasm, Neutropenia, Abnormality of the k... ORPHA:228119
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepa... OMIM:615846
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Hyperhidrosis, Thrombocytopenia, ... ORPHA:108
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hemolytic-ure... OMIM:614727
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... OMIM:269200
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Immunodeficiency 54
Reduced natural killer cell count, Recurrent respiratory infections, Adrenal insufficiency, Splen... OMIM:609981
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Elevated circulating hepatic t... ORPHA:36426
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Thrombocytosis, Foll... OMIM:615934
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh... ORPHA:90038
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Cystic Fibrosis
Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancrea... OMIM:219700
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Diastasis recti, Renal in... ORPHA:440713
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting, Splenomegaly, Decreased beta-galactosidase activity, Hepat... OMIM:230350
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:537
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cardiomyopathy, Cytoplas... ORPHA:48435
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612782
Acquired Generalized Lipodystrophy
Lymphoma, Cardiomyopathy, Autoimmunity, Hepatic steatosis, Myopathy, Polycystic ovaries, Proteinu... ORPHA:79086
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Protrudi... OMIM:242860
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Jejunoileal ulceration, ... ORPHA:436252
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increase... OMIM:618523
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Tafro Syndrome
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Renal insufficien... ORPHA:457077
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Mixed Connective Tissue Disease
Nephropathy, Xerostomia, Hepatomegaly, Gastrointestinal hemorrhage, Gastroesophageal reflux, Myos... ORPHA:809
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... OMIM:105200
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity,... ORPHA:2902
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... OMIM:620010
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting, Elevated circulating hepati... OMIM:614480
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Intestinal perforation, Pleural empyema, Acute kidney injury, Anuria, Nephrotic range p... ORPHA:544482
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Overlap Myositis
Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Leu... ORPHA:206572
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Situs inversus... OMIM:615482
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Vomiting, Skeletal muscle atrophy, Increased circul... ORPHA:26791
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Increased circulating interleukin 6 concentration, He... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Graves disease, Adrenocorticotropin de... ORPHA:199299
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Hypereosinophili... ORPHA:449400
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas... ORPHA:90003
Coproporphyria, Hereditary
Vomiting, Diarrhea, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Ele... OMIM:121300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hypohidrosis, Hepatitis ORPHA:363523
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... OMIM:619374
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Diffuse Neonatal Hemangiomatosis
Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly, H... ORPHA:2123
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... ORPHA:42642
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Wolman Disease
Reduced lysosomal acid lipase activity, Vomiting, Acute hepatic failure, Splenomegaly, Hepatomegaly OMIM:620151
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Behçet Disease
Endocarditis, Gastrointestinal hemorrhage, Renal insufficiency, Pleural effusion, Increased infla... ORPHA:117
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Splenomegaly, In... OMIM:617591
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Gl... OMIM:613404
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly... OMIM:614376
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Cold Agglutinin Disease
Diarrhea, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemo... ORPHA:56425
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Skeletal muscle atrophy, Eczematoid dermatitis, Chronic muc... OMIM:614162
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level OMIM:612126
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth... OMIM:615688
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Hip contracture... OMIM:616651
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Diarrhea, Ketonuria, Elevated circulating hepatic transaminase concent... ORPHA:20
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegal... ORPHA:99827
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Rhabdomyolysis, Intestinal p... ORPHA:810
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... OMIM:613313
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hematuria, Acute tubulointerstitial nephritis, Pulmonary edema,... ORPHA:340
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Vomiting, Elevated circulating hepatic transaminase concen... OMIM:614921
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu... ORPHA:77297
Atelis Syndrome 1
Eczematoid dermatitis, Leukopenia, Glue ear, Ventricular septal defect, Hypothyroidism, Atrial se... OMIM:620184
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Organic aciduria, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis, Decreased activity ... ORPHA:431361
Niemann-Pick Disease, Type A
Vomiting, Skeletal muscle atrophy, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated c... OMIM:257200
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration ORPHA:930
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari... ORPHA:79259
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, A... ORPHA:760
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Osteomyelitis, Lymphopenia, Anemia, B lymphoc... OMIM:614172
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria ORPHA:79238
Gaucher Disease Type 2
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Skin rash, Splenomegaly, Lymphadenopathy, Hyperh... ORPHA:391
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re... ORPHA:584
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Agangli... ORPHA:3386
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Hamartoma, Cleft palate, Aspiration pneumonia ORPHA:141152
Microlissencephaly
Pneumonia ORPHA:1083
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Myopathy, Polycystic ovaries, Pancr... ORPHA:280365
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Antinuclear antibody positivity, Lympho... OMIM:617718
Rigid Spine Syndrome
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myopathy, ... ORPHA:97244
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor... OMIM:612387
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Kawasaki Disease
Diarrhea, Recurrent pharyngitis, Jaundice, Sterile pyuria, Arthritis, Glossitis, Cheilitis, Hepat... ORPHA:2331
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, He... OMIM:619183
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia ORPHA:318
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia, Inc... ORPHA:83313
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa... OMIM:612714
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hi... OMIM:269920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Calf muscle hypertrophy, Pancreatitis, Hepatomegaly, Skele... ORPHA:435651
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:90033
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Gaucher Disease
Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Cirrho... ORPHA:355
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decrease... ORPHA:169105
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hype... ORPHA:69077
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Follicular Lymphoma
Lymphoma, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Medias... ORPHA:545
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe... ORPHA:464343
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Recurrent otitis media, Microcytic anemia, Ankyloglossi... OMIM:619525
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Increased circulating ferri... ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Nephrocalcinosis, Chronic mucocutaneous candidiasis... OMIM:240300
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio... ORPHA:133
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Chronic constipation, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, ... OMIM:619428
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Reduced cystathionine beta-synthase act... OMIM:236200
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Anti-centromere antibody positivity, Elevated cir... OMIM:613471
Cryptococcosis
Pneumonia, Vomiting, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Neoplasm, Limb mu... ORPHA:1546
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite... OMIM:256550
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Fetal Parvovirus Syndrome
Anemia, Ascites, Thrombocytopenia ORPHA:295
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... ORPHA:398063
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of... ORPHA:1046
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Maple Syrup Urine Disease, Type Ia
Vomiting, Increased level of hippuric acid in urine, Reduced branched-chain alpha-keto acid dehyd... OMIM:248600
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Rectovaginal f... ORPHA:35078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Endocardial fibroelastos... OMIM:619313
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Distal amyotrophy, Hypothyroidism, Iridocyclitis, Pancreatitis, Dysphagia ORPHA:412057
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis OMIM:238600
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Arthritis, Hepatomegaly OMIM:602390
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... ORPHA:238459
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R... OMIM:301110
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat... OMIM:617303
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Recurrent pneumonia, Splenomegaly, High palate OMIM:615637
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ... ORPHA:36238
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega... OMIM:616719
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Rubella Syndrome
Splenomegaly, Skin rash, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, ... ORPHA:290
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat... OMIM:232240
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... ORPHA:98850
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Decreased specific anti-polysaccharide antibody ... OMIM:614576
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Melas
Nephropathy, Focal segmental glomerulosclerosis, Diarrhea, Vomiting, Proximal tubulopathy, Intest... ORPHA:550
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocri... OMIM:618268
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Neoplasm, Interstitial pneumonitis, Pl... ORPHA:723
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Recurrent otitis media, D... OMIM:615607
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ... OMIM:610377
Wilson Disease
Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Elevated circulating a... OMIM:277900
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Recurrent respiratory infections, Otitis media, Splenome... ORPHA:379
Muckle-Wells Syndrome
Nephropathy, Nephrotic syndrome, Renal amyloidosis, Camptodactyly of finger, Recurrent aphthous s... ORPHA:575
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthritis, Hepatomegaly OMIM:228000
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Graves disease, Elevated circulating hepatic transaminase concentration, Goi... ORPHA:525731
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuria, Diffuse me... OMIM:251300
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Hodgkin lymphoma, Increased circulating IgA level, Multiple myeloma... ORPHA:2298
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Proteinuria, Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative ... ORPHA:251004
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Elevated circulating carcinoembryonic antigen concentration, Abnormal circu... ORPHA:264675
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... ORPHA:444490
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, Hepatomegaly, Recurrent l... OMIM:612541
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Recurrent urinary tract... OMIM:617053
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Episodic vomiting, Acute hepatitis, Homocitrullinuria OMIM:238970
Immunodeficiency 12
Recurrent aphthous stomatitis, Complete or near-complete absence of specific antibody response to... OMIM:615468
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Increased circulating IgG lev... ORPHA:319251
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, In... ORPHA:1451
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Increased circulating lactate... ORPHA:50918
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Otitis media, Chronic sinusitis, Chroni... OMIM:613807
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Citrullinemia Type Ii
Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, He... ORPHA:247585
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immune Thrombocytopenia
Hematuria, Thrombocytopenia, Anti-platelet antigen antibody positivity ORPHA:3002
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, IgA deposition in the glomerulus, Anal fissure, Ankyloglossia, Urethral s... ORPHA:79408
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... OMIM:620296
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage co... OMIM:610910
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phospho... OMIM:261750
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophili... ORPHA:98849
Oculopharyngodistal Myopathy
High, narrow palate, Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, Distal l... ORPHA:98897
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Autoimmune antibody posi... OMIM:301054
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glycosuria, Elevated cir... OMIM:617253
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Listeriosis
Arteritis, Diarrhea, Abscess, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Acute kidney injur... ORPHA:533
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Elevated circulati... OMIM:214950
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Intestinal obstruction, Hematuria, Tubulointerstitial nephritis, Dysp... ORPHA:183
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchit... ORPHA:32960
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia OMIM:612952
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... OMIM:233450
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Yellow Fever
Acute kidney injury, Diarrhea, Vomiting, Pancreatic hyperplasia, Anuria, Elevated circulating asp... ORPHA:99829
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Decreased ... OMIM:601495
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar... OMIM:620233
Isovaleric Acidemia
Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate... OMIM:243500
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Primary Ciliary Dyskinesia
Polysplenia, Atelectasis, Recurrent otitis media, Intestinal malrotation, Pulmonary situs ambiguu... ORPHA:244
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas... OMIM:208900
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... ORPHA:99880
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, ... OMIM:249100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero... OMIM:617021
Wolman Disease
Hepatic failure, Ascites, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow ... ORPHA:75233
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:98908
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Leptospirosis
Uveitis, Diarrhea, Acute kidney injury, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin r... ORPHA:509
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... OMIM:608594
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular ca... OMIM:145981
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... OMIM:620367
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Upper limb muscle weakness, Lower limb muscle... ORPHA:90117
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma... ORPHA:143
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level OMIM:618752
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis, Neoplasm of the oral cavity ORPHA:525
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Chronic sinusitis, Chronic ... OMIM:244400
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Alpha-Mannosidosis, Adult Form
Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Macroglossia ORPHA:309288
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Cryptorchidism, Rectus femoris muscle atrophy, Hi... ORPHA:98905
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Abnormal endocardium morphol... ORPHA:1334
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp... ORPHA:247691
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... OMIM:242900
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatom... ORPHA:834
Cog4-Cdg
Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis,... OMIM:612444
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level, Ovarian cyst OMIM:610475
Sialidosis Type 2
Nephropathy, Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture ORPHA:87876
Scrub Typhus
Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Hyperhidr... ORPHA:83317
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Mirizzi Syndrome
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Dark urine, El... ORPHA:521219
Mixed-Type Autoimmune Hemolytic Anemia
Lymphoma, Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Skin rash, Autoimmu... ORPHA:90036
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Penile freckling, Decreased circulating antibody level, Sple... OMIM:605309
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit... OMIM:600740
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
X-Linked Centronuclear Myopathy
Pneumonia, Centrally nucleated skeletal muscle fibers, Recurrent respiratory infections, Weakness... ORPHA:596
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Relapsing Polychondritis
Scleritis, Hematuria, Inflammatory abnormality of the eye, Renal insufficiency, Abnormal endocard... ORPHA:728
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac... ORPHA:131
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient ... ORPHA:293978
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cryptorchidism, Patent f... OMIM:620371
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Glioma, Anal stenosis, Lymphoma, Recurrent urinary tract infection... OMIM:251260
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to gro... OMIM:603467
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa... ORPHA:99745
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Decreased circul... ORPHA:90363
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Castleman Disease
Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Fol... ORPHA:160
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Lujo Hemorrhagic Fever
Diarrhea, Vomiting, Oliguria, Increased circulating lactate dehydrogenase concentration, Elevated... ORPHA:319213
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla... OMIM:602347
Dengue Fever
Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Hy... OMIM:614857
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Aicardi-Goutieres Syndrome 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, Splenomegaly... OMIM:225750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolithiasis, Parathormone-indepen... ORPHA:405
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f... OMIM:251880
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia... OMIM:127550
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Parathyroid ad... OMIM:145980
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Alpha-Mannosidosis
Recurrent respiratory infections, Splenomegaly, Arthritis, Hepatomegaly, Macroglossia, Narrow pal... ORPHA:61
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Gas... OMIM:155310
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Diarrhea, Heparan sulfate excretion in urine, Splen... OMIM:252920
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Foot dorsif... OMIM:214500
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Poikiloderma With Neutropenia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ... OMIM:604173
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Chylopericardium,... ORPHA:2414
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... OMIM:603585
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Tropical Pancreatitis
Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N... ORPHA:103918
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Immunodeficiency 77
Bronchiectasis, Gastroparesis, Recurrent tonsillitis, Cutaneous abscess OMIM:619223
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Cholestasis, Ascites, Elevated circulating creatinine concentration, Anemia, Thr... OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Elevated circulating alkaline phosphatase conce... OMIM:601847
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Acute leukemia, Abnormal eosinophil morphology,... ORPHA:906
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... OMIM:104200
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d... OMIM:300842
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autoimmunity, Abnormal mitral valve morpholo... ORPHA:732
Acute Disseminated Encephalomyelitis
Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glyc... ORPHA:83597
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody leve... OMIM:301000
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
B4Galt1-Cdg
Diarrhea, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concent... ORPHA:79332
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial... ORPHA:79128
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Increased circ... OMIM:611881
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotropin deficient ... ORPHA:199296
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:235555
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Sepsis In Premature Infants
Oliguria, Increased circulating interleukin 6 concentration, Reversible renal failure, Leukocytos... ORPHA:90051
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Pancyto... OMIM:251110
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,... OMIM:616589
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Dysphagia, Neutropenia, Hypospadias, Bronchiectasis OMIM:618253
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepa... OMIM:619991
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Cocaine Intoxication
Acute kidney injury, Vomiting, Increased circulating lactate dehydrogenase concentration, Diffuse... ORPHA:90068
Nail-Patella Syndrome
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in... OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Aspiration pneumonia, Vulvar neoplasm, Hematuria, Achalasia,... ORPHA:1018
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepatomeg... ORPHA:264580
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Verrucae, Eczematoid dermatitis, Cutaneou... OMIM:618131
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Immunodeficiency 87 And Autoimmunity
Anticardiolipin IgG antibody positivity, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Cervi... OMIM:619573
Antisynthetase Syndrome
Autoimmunity, Neoplasm, Skin rash, Elevated circulating creatine kinase concentration, Myositis, ... ORPHA:81
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... ORPHA:454831
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f... OMIM:612852
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cor pulmonale, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue... OMIM:158310
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly, Ventricular ... OMIM:615673
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ... OMIM:251100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea, Reduced leukocyte N-sulfoglucosamine sulf... OMIM:252900
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal lymphatic vessel m... ORPHA:464329
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Dysbetalipoproteinemia
Tendon xanthomatosis, Gout, Hepatic steatosis, Hypothyroidism, Renal steatosis, Hepatomegaly, Acu... ORPHA:412
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Sinusitis, Abnormal renal morp... ORPHA:449280
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hepatic failure, Increased circulating corti... ORPHA:97287
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Whipple Disease
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Pleuritis, Splenomegaly, Infectious encephalitis,... ORPHA:3452
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Pleural effusio... OMIM:235200
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:520
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ... OMIM:203800
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Systemic lupus erythematosus, Neoplasm, Hashimoto thyroiditis, Proximal amyotrophy, Type... OMIM:159400
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Elevated circulating creatine ki... OMIM:301056
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Hypoplasia of ly... ORPHA:662
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Skeletal muscle atrophy, Vomiting, Elevated circulating hepatic trans... ORPHA:79240
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia ORPHA:251009
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly OMIM:259700
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ... OMIM:618254
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Splenomegaly, Muco... ORPHA:583
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate OMIM:619046
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Proteinuria, P... OMIM:619471
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Heparan sul... OMIM:309900
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman... ORPHA:79078
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ele... ORPHA:26793
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Beta-Thalassemia Major
Hypoplasia of the musculature, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pers... ORPHA:231214
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Increased mean platelet volume, Platelet anisocytosis, Thrombocytopenia, Anti-platelet antigen an... OMIM:620475
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity, Dysphagia,... ORPHA:2590
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Systemic lupus erythematosus, Abnormal... ORPHA:77293
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septa... OMIM:601005
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... OMIM:259720
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Gm1 Gangliosidosis
Gastroesophageal reflux, Cardiomyopathy, Aspiration pneumonia, Camptodactyly of finger, Abnormal ... ORPHA:354
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Recur... OMIM:613327
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Gastroesophageal reflux, Intermittent diarrhea OMIM:619971
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic... OMIM:251290
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Iridocyc... OMIM:181000
Stt3B-Cdg
Micropenis, Thrombocytopenia ORPHA:370924
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Thrombocytopenia ORPHA:79242
Gm1-Gangliosidosis, Type I
Abnormality of the urinary system, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal ... OMIM:230500
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia OMIM:615597
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic... OMIM:615451
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Joubert Syndrome 33
Splenomegaly OMIM:617767
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic h... ORPHA:465508
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... ORPHA:3203
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Hepatomegaly, Tubul... ORPHA:797
Igg4-Related Thyroid Disease
Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu... ORPHA:64744
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Familial Tumoral Calcinosis
Neoplasm of the skin, Nephrocalcinosis, Splenomegaly, Skin rash, Hyperhidrosis, Hepatomegaly, Cal... ORPHA:53715
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage... ORPHA:33226
Hennekam Syndrome
Chylothorax, Erysipelas, Camptodactyly of finger, Ascites, Lymphopenia, Horseshoe kidney, Benign ... ORPHA:2136
Snakebite Envenomation
Hyponatremia, Acute kidney injury, Thrombocytopenia ORPHA:449285
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Diarrhea, Heparan sulfate excretion in urine, Splen... OMIM:252930
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Neutropenia, Thrombocytopenia, Anemia OMIM:614520
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification... OMIM:607625
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Decreased circula... OMIM:620005
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici... OMIM:619418
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Recurrent bronchiolitis, Bronchiectasis, Chronic bro... OMIM:613021
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Nephronophthisis, Abnormal abdomen morphology, Eleva... OMIM:216360
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Eso... OMIM:616028
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Aspirat... OMIM:301072
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Primary adre... ORPHA:2905
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar... ORPHA:635
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Chronic sinusit... OMIM:615504
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Gastropares... OMIM:616368
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis ORPHA:411703
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Acute kidney injury, Hepatocellular n... ORPHA:90062
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:88
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Heparan sulfate ex... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Chroni... ORPHA:168569
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Splenomegaly, Cholecystitis, Macrocyt... OMIM:615512
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Rec... OMIM:230900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia OMIM:620365
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Chronic sinusitis, Chronic... OMIM:617092
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Urethra... OMIM:613989
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase... ORPHA:77261
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat... OMIM:607426
Pachydermoperiostosis
Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyel... ORPHA:2796
Alström Syndrome
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Testicular fibrosis, Decreased ... ORPHA:64
Necrotizing Enterocolitis
Ascites, Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Dermatomyositis
Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity... ORPHA:221
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Decreased circul... ORPHA:29073
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Scheie Syndrome
Hepatomegaly, Rhinitis, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp... ORPHA:729
Lipodystrophy, Familial Partial, Type 2
Increased intramuscular fat, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreati... OMIM:151660
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... OMIM:222300
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ... OMIM:235255
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp... OMIM:227650
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level OMIM:619750
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic a... OMIM:557000
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac... OMIM:614946
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Roifman Syndrome
Decreased circulating antibody level ORPHA:353298
Scorpion Envenomation
Acute kidney injury, Vomiting, Diarrhea, Glycosuria, Ketonuria, Increased circulating lactate deh... ORPHA:466677
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites, Abnormal renal corticomedullary differentiation, Thrombocytopenia OMIM:617397
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypopl... ORPHA:699
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt... OMIM:600901
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Alg8-Cdg
Anemia, Ascites, Hyponatremia, Thrombocytopenia ORPHA:79325
Biotinidase Deficiency
Diarrhea, Vomiting, Organic aciduria, Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased c... OMIM:253260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma, Cleft palate, High palate OMIM:300484
Glycogen Storage Disease Ii
Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydr... OMIM:232300
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... OMIM:615505
Alg12-Cdg
Hypoalbuminemia, Abnormal circulating IgM level, Hypocholesterolemia, Complete or near-complete a... ORPHA:79324
Hurler-Scheie Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Heparan sulfate excretion in urine, Co... OMIM:607015
Fucosidosis
Macroglossia, Oligosacchariduria, Recurrent respiratory infections, Reduced circulating alpha-L-f... OMIM:230000
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, High palate, Ectopic ... OMIM:122470
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia OMIM:613987
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Dilatation of the renal pelvis, Interstitial emphysema, Lymp... OMIM:619708
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenom... ORPHA:579
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Hyperhidrosis, Thrombocytosis... ORPHA:71493
Oculoskeletodental Syndrome
Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Splenomegaly, Cryptorchidi... OMIM:618440
Neuroleptic Malignant Syndrome
Acute kidney injury, Vomiting, Increased circulating lactate dehydrogenase concentration, Elevate... ORPHA:94093
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re... OMIM:617050
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Dextrocardia... OMIM:614679
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome... ORPHA:1655
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, A... OMIM:260400
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Abnormal heart morphology, Abnormal circulating enzyme concentration or act... ORPHA:79264
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase conce... OMIM:618775
Dyskeratosis Congenita
Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esophageal stenosis,... ORPHA:1775
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Inc... OMIM:256040
Blau Syndrome
Posterior uveitis, Nephropathy, Keratitis, Xerostomia, Abnormal salivary gland morphology, Campto... ORPHA:90340
Mucopolysaccharidosis, Type Vi
Pneumonia, Reduced leukocyte arylsulfatase B activity, Recurrent upper respiratory tract infectio... OMIM:253200
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, De... ORPHA:79255
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, 3-hydroxyisoval... OMIM:253270
Glycerol Kinase Deficiency
Muscular dystrophy, Vomiting, Increased urinary glycerol, Adrenal insufficiency, Chronic pancreat... OMIM:307030
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Intractable diarrhea, Galactosuria, Hepatic failure, Bifid uvula, Cholestasis, ... OMIM:222470
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f... OMIM:619167
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Urethr... OMIM:613990
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu... ORPHA:79404
Degcags Syndrome
Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,... OMIM:619488
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Fle... OMIM:608149
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Bronchi... OMIM:620032
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc... OMIM:227645
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Cardiomyopathy, Recurrent otitis media, Heparan sul... OMIM:253220
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Abnormal mitral valve morphology, Hepa... ORPHA:581
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Erythroid hyperplas... ORPHA:79277
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Hepatic failure, Elev... ORPHA:567983
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Splenomegaly, Hyperphosphaturia, Anemia, Constipation, Hypercalciuria, Polyuria, C... OMIM:239200
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ... ORPHA:31150
Porphyria, Congenital Erythropoietic
Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin... OMIM:263700
Hurler Syndrome
Recurrent respiratory infections, Cardiomyopathy, Recurrent otitis media, Heparan sulfate excreti... OMIM:607014
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Splenomegaly, Protruding tongue, Decreased beta-galactosidase activity, H... OMIM:230600
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, Cryptorchidism, Abnormal heart morphology ORPHA:1867
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Vomiting, Camptodactyly of finger, High palate ORPHA:2135
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hoyeraal-Hreidarsson Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypochromic anemia, Cardiomyopathy, Leukocytosis, Splenomegaly, Elevat... ORPHA:289157
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic rhinitis, Dextrocard... OMIM:611884
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Lig4 Syndrome
Micropenis, Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal t... ORPHA:2785
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Rhinitis, Chronic otitis... OMIM:618063
Hurler Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Cardiomyopathy, Abnormal heart valve m... ORPHA:93473
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Thrombocytope... OMIM:611209
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Dysphagia, Thro... OMIM:608013
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen... OMIM:227646
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic... OMIM:608647
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Chronic sinusitis, Ventricula... OMIM:616037
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Microvesicular hepatic steatosis, Dicarboxylic aciduria OMIM:611126
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepatomegaly OMIM:201100
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy... ORPHA:309854
Beckwith-Wiedemann Syndrome
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visce... ORPHA:116
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutropenia OMIM:616271
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Alpha-Mannosidosis, Infantile Form
Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopen... ORPHA:309282
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contr... ORPHA:70
Severe Acute Respiratory Syndrome
Acute kidney injury, Neoplasm, Acute infectious pneumonia ORPHA:140896
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Dextrocardia, Bronchiectasis OMIM:617577
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Auto... ORPHA:70591
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Abnormal medullary pyramid morphology, Ventricular septal defect, Recurr... ORPHA:79243
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Leukopenia, Vesicouretera... OMIM:620654
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Adams-Oliver Syndrome
Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia ORPHA:974
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Recurrent urinary tract infections, Chol... ORPHA:198
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia, Elevated... ORPHA:297
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... OMIM:615444
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... OMIM:215600
Lassa Fever
Increased circulating IgM level ORPHA:99824
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Chronic ... OMIM:613808
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Bronchogenic cyst,... ORPHA:2969
Cleft Velum
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis m... ORPHA:99772
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Renal... ORPHA:79282
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,... ORPHA:95455
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Thrombocytopenia OMIM:610733
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Anal atresia... ORPHA:567
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Myocardial necrosis, Vomiting, Granuloma, Intrarenal a... ORPHA:68
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... OMIM:614935
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Niemann-Pick Disease Type C
Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... ORPHA:646
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Decreased circulating antib... OMIM:274000
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Gastroesophageal reflux, Elevated circulating hepatic transaminas... ORPHA:73230
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Farber Disease
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... ORPHA:333
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, ... OMIM:188400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level OMIM:226300
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Fanconi Anemia, Complementation Group B
Micropenis, Aplastic anemia, Renal agenesis, Thrombocytopenia OMIM:300514
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Lathosterolosis
Intrahepatic cholestasis, Horseshoe kidney, Abnormal platelet morphology, Thrombocytopenia, Aniso... ORPHA:46059
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... ORPHA:124
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Vomiting, Diarrhea, Lower limb muscle weakness, Pleural effusion, Pulmo... OMIM:606721
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Increased circulating IgE level, Congenital d... ORPHA:373
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia OMIM:224230
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm... OMIM:617941
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... ORPHA:51
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Gastroesophageal reflux, Nephrocalcinosis, Renal artery stenosis... OMIM:617913
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... OMIM:616737
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Mucolipidosis Type Ii
Cardiomyopathy, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Otitis media, Hip contracture,... ORPHA:576
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Spo... OMIM:610913
Roifman-Chitayat Syndrome
Pneumonia, Ectopic kidney, Arthritis OMIM:613328
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites, Abnormality of the liver, Hyperbilirubinemia, Abnormal renal cortex morphology, Thromboc... ORPHA:464321
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Axial malrotation of the kidney, Thrombocytopenia, Abnormality of the kidney ORPHA:3320
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hypohidrosis, Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Chronic d... OMIM:612132
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Vomiting, Endometrial carcinoma, Adrenal hyperplasia, Decreased circulating cortisol l... ORPHA:90790
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Otitis media, Chronic rhinitis, Pulmonary arte... ORPHA:667
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Blue Rubber Bleb Nevus
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly of finger, Abnormal h... ORPHA:217085
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Pancytopenia, Hematuria, Bronchiolitis obliterans, Dysphagia, Gastroesophag... ORPHA:99921
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephrosis, Anemia, Thrombocytopenia, M... ORPHA:163979
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Infantile Neuroaxonal Dystrophy
Flexion contracture, Constipation, Increased circulating lactate dehydrogenase concentration, Asp... ORPHA:35069
Orofaciodigital Syndrome Ix
High palate, Camptodactyly, Recurrent aspiration pneumonia, Hamartoma, Cleft palate OMIM:258865
Lymphatic Malformation 6
Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural effusion, Spl... OMIM:616843
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Cardiomyopathy, Camptodactyly of finger, Abnormal h... ORPHA:217093
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Renal hypoplasi... ORPHA:870
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Recurrent respiratory in... ORPHA:2020
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality... ORPHA:2072
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Abnormal heart morphology, Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Bickerstaff Brainstem Encephalitis
Pneumonia, Facial paralysis, Limb muscle weakness, Respiratory tract infection, Weakness of facia... ORPHA:79138
Cystinosis, Nephropathic
Myopathy, Hematuria, Hepatomegaly, Dysphagia, Aminoaciduria, Generalized aminoaciduria, Renal ins... OMIM:219800
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Renal hypoplasia, Splenomegaly, Nephroblastoma OMIM:612918
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:79329
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia, Pollakisuria ORPHA:647
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati... ORPHA:95159
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... ORPHA:439232
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micropenis, Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia ORPHA:216866
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Thrombocytopenia OMIM:620423
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353281
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of... OMIM:619534
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Cirrhosis, Acu... OMIM:305000
Camurati-Engelmann Disease
Skeletal muscle atrophy, Urinary retention, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly... ORPHA:1328
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Bilateral cryptorchidism, Chronic constipation, Ventricular sep... OMIM:300472
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Recurrent otitis media, Intestinal malrotation, Congenital hy... OMIM:147920
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Bcard Syndrome
Thrombocytopenia OMIM:612394
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Hypohidrosis, Constipation, Hepatomegaly,... ORPHA:163746
Dubowitz Syndrome
Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemi... ORPHA:235
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Skeletal muscle atrophy, Hip flexor weakness, Lower limb mus... ORPHA:845
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, E... ORPHA:75565
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level OMIM:248500
Opitz Gbbb Syndrome
Abnormality of the urinary system, Abnormal heart morphology, Ankyloglossia, Vesicoureteral reflu... ORPHA:2745
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Abnormality of the lymphatic system, Hydronephrosis, Thrombocytopenia,... ORPHA:487796
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Hyponatremia, Oligosacchariduria, Renal insufficiency, Nephrolit... ORPHA:534
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly OMIM:617809
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Cowden Syndrome 1
Decreased circulating antibody level OMIM:158350
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Chronic sinusitis, Renal cyst, Dysphagia, Pulmonary hypoplasia OMIM:615636
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Horseshoe kidney, Abnormal he... ORPHA:1465
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... ORPHA:3132
Cystic Fibrosis
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Meconium ileus,... ORPHA:586
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Urinary bladder wall hypertrophy, Atrial septal defect, ... ORPHA:280633
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:612199
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Abnormality o... ORPHA:84
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... ORPHA:60025
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Increased circulating prolactin concentration, Aspiration pneumonia, Abn... ORPHA:438213
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc... OMIM:312870
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Recurrent respi... ORPHA:397715
Fibular Hemimelia
Renal dysplasia, Thrombocytopenia ORPHA:93323
Ogden Syndrome
Polycythemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Cardiomegaly, Global glomerul... OMIM:300855
Deeah Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Thrombocytopenia, Micropenis, Decreased hemoglob... OMIM:619004
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F... ORPHA:980
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Atelis Syndrome 2
Anemia, Thrombocytopenia OMIM:620185
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Mercury Poisoning
Nausea, Acute kidney injury, Interstitial pneumonitis, Episodic vomiting ORPHA:330021
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Camptodactyly, Recurren... OMIM:247200
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Cryptorchidism, Ventricular septal defect, Elevated cir... OMIM:243800
Cholera
Acute kidney injury, Vomiting, Diarrhea, Aspiration pneumonia, Decreased urine output, Abnormalit... ORPHA:173
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Marshall-Smith Syndrome
Dysplastic aortic valve, Recurrent upper respiratory tract infections, Anteriorly placed anus, As... OMIM:602535
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Hyperhidrosis, ... ORPHA:642
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353277
Jacobsen Syndrome
Thrombocytopenia, Hypospadias, Annular pancreas OMIM:147791
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary retention, Aspiration pneumonia, Recurrent urinary tract infections, Decreased sweating d... ORPHA:99027
Jacobsen Syndrome
Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Hydronephrosis, Thro... ORPHA:2308
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Aspiration pneumonia OMIM:616430
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Gastroesophag... ORPHA:79500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level ORPHA:79396
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Splenomegaly, Arthritis, Hepatomegaly, ... ORPHA:93
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... OMIM:242840
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t... ORPHA:444077
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Hypospadias, Long penis, Secundum atrial septal defect, Recurrent respiratory infectio... OMIM:264090
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Unroofed coronary sinus, Right atrial enlargement, Right ventricular dilatation, Anoma... ORPHA:99104
Arboleda-Tham Syndrome
Gastroesophageal reflux, Secundum atrial septal defect, Recurrent respiratory infections, Lower l... OMIM:616268
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Hepatom... OMIM:617088
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
Cartilage-Hair Hypoplasia
Decreased circulating antibody level ORPHA:175
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Trichothiodystrophy
Panhypogammaglobulinemia ORPHA:33364
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Vomiting, Central hypothyroidism, Aspiration pneumonia, Dec... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Vomiting, Central hypothyroidism, Aspiration pneumonia, Dec... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Vomiting, Central hypothyroidism, Aspiration pneumonia, Dec... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Vomiting, Central hypothyroidism, Aspiration pneumonia, Dec... ORPHA:220386
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Right atrial enlargement, Right ventricular dilatation, Abnormal mitral valve morphology ORPHA:99103
Fontaine Progeroid Syndrome
High, narrow palate, Gastroesophageal reflux, Absent nipple, Anteriorly placed anus, Abnormal hea... OMIM:612289
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level ORPHA:247598
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... OMIM:619482
Pmm2-Cdg
Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Increased ci... ORPHA:79318
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Osteogenesis Imperfecta
Hypercalciuria, Thrombocytopenia, Nephrolithiasis ORPHA:666
Noonan Syndrome 1
Hypospadias, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950
Sponastrime Dysplasia
Decreased circulating antibody level ORPHA:93357
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Yunis-Varon Syndrome
Absent nipple, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Cryptorchidism, Patent ... OMIM:216340
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level ORPHA:261552
Immunodeficiency 74, Covid19-Related, X-Linked
OMIM:301051

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 Tlr7

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 Tlr7.

No publications found that use IMPC mice or data for Tlr7.

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