Gene Summary

Name:
nucleotide-binding oligomerization domain containing 2
Synonyms:
Nlrc2,  F830032C23Rik,  Card15

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Nod2em1(IMPC)Mbp HOM Early adult 9.44×10-05
abnormal lymph node morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Nod2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Nod2em1(IMPC)Mbp HOM Early adult 3.03×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Histopathology

Images

6 Images

Human diseases caused by Nod2 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 predicted to be associated to Nod2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 24
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Recurrent viral ... OMIM:615897
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Glycoprotein Storage Disease
Gout OMIM:232900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Immunoglobulin A Deficiency 1
Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina... OMIM:137100
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, Lympha... OMIM:619164
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r... OMIM:300635
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... ORPHA:930
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:608971
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Immunodeficiency 32B
Recurrent infections, Hypoalbuminemia, BCGitis, Impaired oxidative burst, Abnormal circulating Ig... OMIM:226990
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... OMIM:300400
Immunodeficiency 46
Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, M... OMIM:616740
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:607594
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve... OMIM:614470
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Colitis, Sterile abscess, Thrombocytosis, El... OMIM:604416
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa... OMIM:618963
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... ORPHA:436159
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Inflammation of the large in... ORPHA:98813
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... OMIM:614102
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Papular Xanthoma
Histiocytosis ORPHA:158008
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation OMIM:260570
Adult Idiopathic Neutropenia
Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen... ORPHA:2688
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... OMIM:616050
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Diarrhea, Absence of lymph nod... ORPHA:277
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, I... OMIM:209950
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Reticular Dysgenesis
Diarrhea, Failure to thrive, Leukopenia, Malabsorption, Skin rash, Weight loss, Anemia, Abnormali... ORPHA:33355
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Agammaglobulinemia, Recurrent infectio... OMIM:615592
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat... OMIM:618935
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric... ORPHA:141152
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Failure to thrive, Projectile vomiting, Weight loss,... OMIM:620045
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut... ORPHA:2494
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutr... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Sp... OMIM:618495
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... OMIM:301082
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating interferon-gamma concentration, Increase... ORPHA:540
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Recurrent pneumonia, Inflammation of the large inte... OMIM:617718
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dyspha... ORPHA:100083
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... ORPHA:388
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Acute Lung Injury
Pneumonia, Sepsis, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine ... ORPHA:178320
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Recurren... OMIM:616576
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase... ORPHA:507
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int... OMIM:619858
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent respiratory ... OMIM:618282
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstructi... ORPHA:67
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp... ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... OMIM:601457
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Malabsorption, Ab... ORPHA:95427
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abnormal circul... ORPHA:103910
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, Lymphaden... ORPHA:100025
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Thromboc... OMIM:603552
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Recurrent viral infections, Sepsis, Ec... OMIM:243700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia ORPHA:100024
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... ORPHA:35078
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Omenn Syndrome
Pneumonia, Recurrent viral infections, Diarrhea, Splenomegaly, Recurrent bacterial infections, Hy... OMIM:603554
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Galactose Epimerase Deficiency
Weight loss, Nausea and vomiting, Splenomegaly, Feeding difficulties ORPHA:79238
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD... OMIM:606367
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hepatic failur... ORPHA:158057
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia... OMIM:620481
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis OMIM:615872
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... OMIM:615122
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Recurrent lower respir... OMIM:300755
Immunodeficiency 56
Recurrent pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:615207
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Chronic hepatitis, Colit... OMIM:614602
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Inflammatory Pseudotumor Of The Liver
Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Weight loss,... ORPHA:90003
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop... OMIM:620443
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... OMIM:615895
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Inflammatory abnormality of the s... ORPHA:398063
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Cachexia, Abdominal distention,... ORPHA:75233
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Malabsorption, ... ORPHA:47
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Spleno... OMIM:603909
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le... OMIM:620565
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Heme Oxygenase 1 Deficiency
Nephritis, Sepsis, Increased circulating interleukin 6 concentration, Increased circulating ferri... OMIM:614034
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Arthritis... ORPHA:42642
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... OMIM:612840
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Decreased circulating total ... OMIM:620210
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Blo... ORPHA:810
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Eosinophilia, Lymphadenopathy, Arthritis, El... OMIM:607115
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Anemia, Increased circulating ... ORPHA:37748
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Mem... OMIM:618999
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ... ORPHA:54251
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentratio... ORPHA:90362
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Splenomegaly, Sclerosing cholan... ORPHA:2137
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... ORPHA:85410
Immunodeficiency 32A
Recurrent infections, Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Sepsis In Premature Infants
Diarrhea, Increased circulating interleukin 6 concentration, Abdominal distention, Vomiting, Decr... ORPHA:90051
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa... ORPHA:98850
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... OMIM:306400
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Intestinal ... ORPHA:449400
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, El... OMIM:116920
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Papa Syndrome
Crohn's disease, Increased inflammatory response, Increased circulating antibody level, Myositis,... ORPHA:69126
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent streptococcal infectio... ORPHA:167
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Acute hepatic failure, He... OMIM:619644
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Panniculitis, Chronic diarrhea, Skin rash, Increased proportion of CD4-po... OMIM:617099
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Lymphopenia, Decr... OMIM:301000
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, L... OMIM:615387
Huntington Disease-Like 2
Weight loss ORPHA:98934
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Pancy... OMIM:614576
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian neopl... ORPHA:83469
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Hypoamylasemia, Recurrent viral infections, Sepsi... ORPHA:811
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:391
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... ORPHA:298
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu... OMIM:152700
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Anemia, Recurrent infe... OMIM:617056
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... ORPHA:77297
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... ORPHA:47612
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Abdom... ORPHA:83313
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive... OMIM:619573
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Dysphagi... ORPHA:1332
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hemophagocytic Syndrome Associated With An Infection
Invasive fungal infection, Severe viral infection, Hemophagocytosis, Increased circulating ferrit... ORPHA:158048
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Isaacs Syndrome
Weight loss ORPHA:84142
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Leukocytosis, A... ORPHA:86839
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactive protein conc... ORPHA:85414
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:3226
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Vertical Talus, Congenital
Arthritis OMIM:192950
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Incre... OMIM:615816
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Pneumocystosis
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level... ORPHA:723
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Thyroid Lymphoma
Dysphagia, Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency 9
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... OMIM:612782
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Anemi... OMIM:618398
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Nausea and vomiting, Weight loss, Pancreatitis, Acholic stools, Abdominal pain, Chronic... ORPHA:65682
Hyper-Igd Syndrome
Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Spleno... OMIM:260920
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,... ORPHA:39812
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Splenomegal... ORPHA:2930
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Conjunctivitis, P... OMIM:620376
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Septic arthritis, Recurrent enteroviral infections, Enteroviral dermatomyositis syndro... OMIM:307200
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Rhabdoid Tumor
Neoplasm of the liver, Lymphadenopathy, Irritability ORPHA:69077
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation ORPHA:85447
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Feeding dif... OMIM:257200
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... OMIM:617321
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology, Aplasia/... ORPHA:2470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Inflammatory abnormality of the skin,... OMIM:102700
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Weight loss, Anorexia, Elevated circulating C-reactive protein concen... ORPHA:1302
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem... ORPHA:88
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, Splenomegaly, Hypop... ORPHA:84064
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Elevated circulating creatinine concentration, Recurrent infection of the gastrointe... OMIM:301110
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morpho... ORPHA:292
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Abnormal circulating chemokine concentration, G... ORPHA:544482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Staphylococcal Necrotizing Pneumonia
Sepsis, Leukopenia, Leukocytosis, Severe infection, Neutrophilia, Elevated circulating C-reactive... ORPHA:36238
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Anaplastic Thyroid Carcinoma
Nodular goiter, Dysphagia, Lymphadenopathy, Goiter ORPHA:142
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Keratoconjunctiviti... ORPHA:309031
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:48377
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Castleman Disease
Increased circulating interleukin 6 concentration, Nausea and vomiting, Intestinal obstruction, A... ORPHA:160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Recur... ORPHA:1572
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... ORPHA:139402
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)