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Gene: Nod2 MGI:2429397

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00
abnormal pancreas morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Nod2em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Nod2em1(IMPC)Mbp HOM Early adult 8.94×10-05
abnormal lymph node morphology Nod2em1(IMPC)Mbp HOM Early adult 0.00

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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

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Histopathology

Images

6 Images

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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
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ... OMIM:300988
Glycoprotein Storage Disease
Gout OMIM:232900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Bloody diarrhea, Leukocytosis, Ulc... OMIM:619398
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren... OMIM:137100
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Spl... OMIM:619164
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Recurren... OMIM:615615
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased circulating anti... OMIM:300635
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Conjunctivitis, Recurrent sinusi... OMIM:613493
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Idiopathic Achalasia
Gastroesophageal reflux, Decreased circulating prealbumin concentration, Recurrent aspiration pne... ORPHA:930
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy OMIM:114580
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Recurrent sinusi... OMIM:613101
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent respirat... OMIM:300853
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgA level, Decreased... OMIM:616452
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circulating IgG leve... OMIM:619281
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Crohn's disease,... OMIM:266600
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Talo-Patello-Scaphoid Osteolysis
Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaphoids ORPHA:50809
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... OMIM:618108
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Chronic oral can... ORPHA:911
Immunodeficiency 104
Pneumonia, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent infe... OMIM:608971
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Monocytopenia, Abnormal circulating IgG level, Neutrophili... OMIM:226990
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis, Autoimmunity OMIM:216950
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Chronic diarrhea, Crohn's dise... OMIM:618394
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ... OMIM:300400
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, At... OMIM:617638
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Recurrent infections, I... OMIM:618982
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Persistent CMV viremia, Recur... OMIM:617514
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... OMIM:618969
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Hip osteoarthritis... OMIM:105835
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s... OMIM:617765
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthritis, ... OMIM:604416
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Failur... OMIM:618963
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnormal immunogl... ORPHA:98813
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopenia, Splenomegal... OMIM:615285
Papular Xanthoma
Histiocytosis ORPHA:158008
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection 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, Obesity, Colitis ORPHA:88643
Aids Wasting Syndrome
Anorexia, Cachexia, Malabsorption, Weight loss, Malnutrition ORPHA:90081
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Elevated cir... OMIM:301074
Immunodeficiency 108 With Autoinflammation
Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Decrease... ORPHA:572
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Episodic vomiting, S... OMIM:616050
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, De... OMIM:308240
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea... ORPHA:275
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, B lymphocytopenia, Increased circulating IgE level, Lymphopenia... ORPHA:277
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Cholangi... OMIM:209920
Immunodeficiency 27A
Anorexia, Anemia, Increased circulating IgG level, Diarrhea, Salmonella osteomyelitis, Leukocytos... OMIM:209950
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Reticular Dysgenesis
Chronic otitis media, Anemia, Diarrhea, Skin rash, Decreased circulating antibody level, Failure ... ORPHA:33355
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu... OMIM:615592
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent lower respir... OMIM:618534
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Recurrent otitis media, Increased circulating interleukin 6 concentration, Recurrent lower respir... OMIM:620430
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, 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
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Recurrent infections, Cro... OMIM:618935
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgG level, Complete or near-complete absence ... OMIM:610163
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Cleft palate, Feeding difficulties, Weight loss, Microglossia, Nasogastric ... ORPHA:141152
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Eleva... 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
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Lymphadenopathy, Recurrent lower respiratory tract infection... OMIM:616100
Intestinal Dysmotility Syndrome
Abdominal distention, Projectile vomiting, Diarrhea, High palate, Decreased intestinal transit ti... OMIM:620045
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St... ORPHA:2494
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Cyclic Neutropenia
Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Per... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Bronchiolitis, Recurrent otitis media OMIM:266265
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Leukocytosis, Sple... OMIM:618042
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight... ORPHA:26790
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthritis, Arthropathy, Wrist flexion contracture, Generalized morni... OMIM:208250
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Increased circulating IgG l... OMIM:618495
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Dec... ORPHA:397596
Immunodeficiency 102
Sepsis, Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Recur... OMIM:301082
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E... OMIM:614878
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on intravenous n... ORPHA:37042
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis OMIM:616744
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circulating int... ORPHA:70578
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Decreased liver function, Increased circulating inte... ORPHA:540
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi... OMIM:615190
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent infections, Lym... OMIM:617718
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Decreased circulating antibody level, Decreas... OMIM:614069
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splen... OMIM:619381
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Diarrhea, Abdominal pain, Fu... ORPHA:388
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Splenome... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymphopenia, A... ORPHA:276
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent aphthous stomat... OMIM:611762
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Recurrent infections, Partial absence of specific antibody response to... OMIM:619824
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Decreased circulating antibody level, Recurrent sinusitis, Recurrent pneumo... OMIM:616576
Leishmaniasis
Anorexia, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphol... ORPHA:507
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Constipation, Slen... OMIM:613662
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Anorexia, Weight loss, Oral-pharynge... ORPHA:100083
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Macrophage Activation Syndrome
Decreased liver function, Increased circulating interleukin 6 concentration, Hemophagocytosis, El... ORPHA:158061
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, Recurrent infections, B... OMIM:150550
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chronic diarrhea, Chilblains, Granuloma,... OMIM:619858
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Frequent Giardia lamb... OMIM:615577
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Recurrent infections, Chronic mucocutaneous can... OMIM:618282
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Splenomegaly,... ORPHA:2585
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Joint swelling, Chond... ORPHA:1416
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Abdominal pain, Diarr... ORPHA:67
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Opportunistic infection, Aplasia o... ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Protein-losing enteropathy, Abnormal circulating protein concentration, Dia... ORPHA:103910
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy, Abdominal pain, Splenomegaly, Malabsorption, Abnor... ORPHA:100025
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivitis, Increased ci... OMIM:603552
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon... ORPHA:3261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increase... OMIM:243700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Polyarticular arthritis, Arthr... ORPHA:85435
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Esophagitis, Eosinophilic, 2
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia OMIM:610247
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r... ORPHA:35078
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Hypouricemia, Neutrope... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Immunodeficiency 10
Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent... OMIM:612783
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Recurrent lower respiratory trac... OMIM:617744
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Omenn Syndrome
Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplasia o... OMIM:603554
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein con... OMIM:613011
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis OMIM:618852
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Weight loss, Feeding difficulties ORPHA:79238
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, Decreased CD4:CD8... OMIM:606367
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:619752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Pancytopen... ORPHA:158057
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:615872
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Immunodeficiency 92
Recurrent oral herpes, Abnormal B cell proliferation, Decreased proportion of class-switched memo... OMIM:619652
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV... OMIM:614868
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Chronic diarrhea, Crohn's disease, Recurrent vulvov... ORPHA:331235
Lymphoproliferative Syndrome 2
Aplastic anemia, Sepsis, EBV encephalitis, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Recur... OMIM:615122
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Pneumonia, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, ... OMIM:602450
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili... ORPHA:411696
Mast Cell Sarcoma
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Failure to thrive, Chronic hepatiti... OMIM:614602
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Anoperineal fistula, Elevated circulating C-reactive protein concentration, Recu... OMIM:613960
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Recurrent sinusitis, Pyoderma, Enteroviral hepatitis, Recurrent pneumo... OMIM:300755
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent infections, Bronchiectas... OMIM:615207
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Increased hepatitis B virus antibody level, Abdominal pain, Vomiting, Nause... ORPHA:90003
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphop... OMIM:620443
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Reduced circ... OMIM:301220
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, Optic neuritis, Complete or near-complete absence ... OMIM:301081
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Lymphadenopathy, Chronic diarrhea, Abdominal pain, Hypoproteinemia, Lymphadenitis, Elevat... OMIM:615895
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Elevated circulating C... ORPHA:3243
Wolman Disease
Abdominal distention, Steatorrhea, Anemia, Cachexia, Bone-marrow foam cells, Esophageal varix, Na... ORPHA:75233
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Eczematoid dermatitis, Decreased circulating IgG level, Erythroderma, ... OMIM:619510
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Chronic diarrhea, Skin rash, Arthritis, Glossoptosis, Sinusitis, Fa... ORPHA:47
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis, Splenomegaly... OMIM:619375
Tularemia
Pneumonia, Mediastinal lymphadenopathy, Increased circulating antibody level, Lymphadenopathy, An... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Lymphadenopathy, Iron deficiency anemia... OMIM:603909
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Recurrent res... OMIM:620565
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, T lymphocytopenia, Recurrent aspiration pn... ORPHA:79124
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Palmoplantar... ORPHA:324964
Heme Oxygenase 1 Deficiency
Sepsis, Increased circulating interleukin 6 concentration, Lymphadenopathy, Elevated circulating ... OMIM:614034
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, R... OMIM:612840
Pfapa Syndrome
Arthritis, Abdominal pain, Malabsorption, Splenomegaly, Weight loss, Nausea and vomiting, Infecti... ORPHA:42642
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... OMIM:620210
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Shigellosis
Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic abscess, Nausea, Abdominal cramps... ORPHA:810
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Weight loss OMIM:612075
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Elevated circulating creatine kinase conc... OMIM:616809
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r... OMIM:607115
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Hepato... ORPHA:391487
Schnitzler Syndrome
Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Spl... ORPHA:37748
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Coloni... OMIM:618999
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:609939
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... ORPHA:35858
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Chronic diarrh... ORPHA:90362
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Bone marrow hypocellularity, Inflammation of the lar... OMIM:620133
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Increa... ORPHA:2137
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Antinucl... ORPHA:85410
Immunodeficiency 32A
Recurrent infections, Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Neonatal sepsis, Increased circulating interleuki... ORPHA:90051
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of ... ORPHA:98850
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:306400
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Recurrent lower respiratory tr... OMIM:615758
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro... ORPHA:449400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Chronic diarrhea, Increased circulating IgE level, Decr... OMIM:304790
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Neoplasm of the pancreas, Lymphadenopathy, Abnormal peritoneum mo... ORPHA:83469
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Recurrent infections, Rectal abscess, Chro... OMIM:116920
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,... ORPHA:167
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hemophagocytosis, Elevated circulating C-reactive protein concentration, F... OMIM:619644
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Weight loss, Eosinophilia, Fasciitis ORPHA:3165
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:50251
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr... OMIM:301000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased p... OMIM:617099
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Lymphadenopathy, D... OMIM:615387
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Recurrent infections, Chroni... OMIM:614576
Huntington Disease-Like 2
Weight loss ORPHA:98934
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa... ORPHA:811
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent... OMIM:214500
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Abnormality of the gastrointestinal tract, Anemia, Gastroesophageal reflux,... ORPHA:298
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Recurrent infections, Elevated circulating creatinine concentration, Neutr... OMIM:617056
Cranio-Osteoarthropathy
Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthritis, Abnormality of the knee, Joint... ORPHA:1525
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... ORPHA:99867
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Increased circulating IgG level, Pancolitis, Increased cir... OMIM:618213
Majeed Syndrome
Acne, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Failure to thrive, Pustul... ORPHA:77297
Felty Syndrome
Chronic otitis media, Sepsis, Anemia, Recurrent pharyngitis, Lymphadenopathy, Recurrent infection... ORPHA:47612
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Abdominal pain, Skin rash, Diarrhea, Nausea, In... ORPHA:83313
Malignant Peritoneal Mesothelioma
Abdominal distention, Abdominal pain, Peritonitis, Weight loss, Ileus ORPHA:168811
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Cleft palate, Feeding difficulties, Perianal dermatitis, In... OMIM:619573
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Severe cytomegalovirus infection, Increased circulating ferritin concentrat... ORPHA:158048
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Isaacs Syndrome
Weight loss ORPHA:84142
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Peritoneal Cystic Mesothelioma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Weight loss ORPHA:168816
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Abd... ORPHA:85414
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Central Diabetes Insipidus
Anorexia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting ORPHA:178029
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency 43
Abnormal circulating IgM level, Decreased circulating IgG level, Abnormal circulating IgA level, ... OMIM:241600
Vertical Talus, Congenital
Arthritis OMIM:192950
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Pneumo... ORPHA:723
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abdominal pain... ORPHA:131
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Immunodeficiency 9
Recurrent aphthous stomatitis, Stomatitis, Recurrent infections, Decreased circulating IgG level,... OMIM:612782
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increased circulating ferriti... OMIM:618398
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Pancreatitis, Abdominal pain, Chronic diarrhea, Hepatocellular carcinoma, Nausea and vo... ORPHA:65682
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Chronic diarrhea, Increased circ... OMIM:260920
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Graft Versus Host Disease
Gastrointestinal inflammation, Hemophagocytosis, Maculopapular exanthema, Inflammatory abnormalit... ORPHA:39812
Cronkhite-Canada Syndrome
Anorexia, Anemia, Intestinal polyposis, Stomach cancer, Diarrhea, Cachexia, Abdominal pain, Furro... ORPHA:2930
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei... OMIM:620376
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo... ORPHA:1876
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Thyroid Lymphoma
Goiter, Lymphadenopathy, Dysphagia ORPHA:97285
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphadenopathy, Increased circulating antibody level, Panniculitis, Recurrent infections... OMIM:617591
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation ORPHA:85447
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo... ORPHA:98897
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Bone-marrow foam cells, Feeding difficulties in infancy, Failure to thriv... OMIM:257200
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Yao Syndrome
Diarrhea, Abdominal pain, Skin rash, Xerostomia, Arthritis, Pericarditis, Inflammatory abnormalit... OMIM:617321
Rhabdoid Tumor
Anemia, Abdominal pain, Poor appetite, Thrombocytopenia, Weight loss, Nausea and vomiting, Neopla... ORPHA:69077
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Skin rash, Chronic mucocutaneous candidiasis, Increased circulati... OMIM:102700
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Bone marrow hypocellularity, Throm... ORPHA:88
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Cryptogenic Organizing Pneumonia
Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Weig... ORPHA:1302
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a... OMIM:106300
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Anemia of inadequate production, Persisten... OMIM:613673
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Panhypogammaglobulinemia, Recurrent infections,... ORPHA:84064
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi... OMIM:180300
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Recurrent infections, Schistocytosis, Recurrent infection of t... OMIM:301110
Idiopathic Hypereosinophilic Syndrome
Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Abdominal pain, Neutrophilia, Hepatosplen... ORPHA:3260
Aregenerative Anemia
Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Leukocytosis, Hepatic failure, Le... ORPHA:292
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Infection-Related Hemolytic Uremic Syndrome
Intussusception, Myocarditis, Increased circulating interleukin 6 concentration, Abdominal pain, ... ORPHA:544482
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Staphylococcal Necrotizing Pneumonia
Sepsis, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Leukop... ORPHA:36238
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Iron deficiency anemia, Diarrhea, Abdominal pain, Exocrine pan... ORPHA:309031
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Pustule, Systemic lupus erythematosus ORPHA:48377
Alexander Disease Type I
Vomiting, Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... OMIM:613470
Castleman Disease
Intestinal obstruction, Abdominal distention, Abnormality of the gastrointestinal tract, Increase... ORPHA:160
Common Variable Immunodeficiency
Chronic otitis media, Lymphadenopathy, Recurrent bronchitis, Decreased circulating antibody level... ORPHA:1572
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess OMIM:609981
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pustule, Acute hepa... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Malnutrition, Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Cach... OMIM:603041
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Anemia, Glossitis, Cachexia, Abdominal pain, Diarrhea, Hama... OMIM:175500
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Rec... OMIM:212750
Adult-Onset Still Disease
Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Abdominal pain, Skin ... ORPHA:829
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Neoplasm of the tongue, Skin rash, Abnormal... ORPHA:100026
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Lymphadenopathy, Recurrent viral infections, Recurrent mycobacteria... ORPHA:169090
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis OMIM:301108
Acute Monoblastic/Monocytic Leukemia
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic... ORPHA:514
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Macroglossia, Elevated circulating creatine kinase concentration ORPHA:353
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Increased circulating renin level, Vomiting, Pustule, Weight loss, Failure to ... ORPHA:171876
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Congenital Toxoplasmosis
Jaundice, Lymphadenopathy, Hepatomegaly ORPHA:858
Familial Pancreatic Carcinoma
Anorexia, Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic ... ORPHA:1333
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy, Dysphagia ORPHA:142
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Protein-losing enteropathy, Impaired lymph... OMIM:614162
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the wrist, Hip osteoarthritis, Synovial lining hyperplasia, Knee o... ORPHA:85408
Holocarboxylase Synthetase Deficiency
Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Weight ... ORPHA:79242
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Sinusitis, Abnormal platelet morphology, Hem... ORPHA:906
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:767
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal squamous cell... ORPHA:424019
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Anorexia, Myocarditis, Incre... ORPHA:1304
Laryngotracheoesophageal Cleft Type 4
Cachexia, Intestinal atresia, Abnormality of the spleen, Tracheoesophageal fistula ORPHA:93941
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Moynahan Syndrome
Cachexia ORPHA:2574
Hypercalcemia, Infantile, 1
Vomiting, Failure to thrive, Weight loss OMIM:143880
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Wilson Disease
Anemia, Acute hepatitis, Arthritis, Increased body weight, Failure to thrive, Thrombocytopenia, S... ORPHA:905
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Takayasu Arteritis
Anorexia, Gastrointestinal infarctions, Anemia, Inflammatory abnormality of the eye, Arthritis, W... ORPHA:3287
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss, Malnu... ORPHA:35710
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Dyspepsia, Anemia,... ORPHA:85450
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Hypoproteinemia, Failure to thrive, Leukopenia... OMIM:603553
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 1
Anemia, Hemophagocytosis, Hypoproteinemia, Failure to thrive, Leukopenia, Splenomegaly, Thrombocy... OMIM:267700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Arthritis, Recurrent urinary tract inf... ORPHA:221139
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Lymphadenopathy, Recurrent pharyngitis, Elevated circulating C-reactive p... ORPHA:32960
Huntington Disease-Like 2
Weight loss OMIM:606438
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Myositis, Skin rash, Increased circulating IgG level, Increased circulating IgA level... OMIM:615934
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Leukocytosis, Pericarditis, Weight loss ORPHA:188
Hyperlipoproteinemia, Type Id
Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Tafro Syndrome
Increased circulating interleukin 6 concentration, Lymphadenopathy, Elevated circulating C-reacti... ORPHA:457077
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Decreased T cell activ... ORPHA:66628
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop... OMIM:275350
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Diarrhea, Arthritis, Skin rash, Parotitis, ... ORPHA:31205
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Acquired Hypertrichosis Lanuginosa
Glossitis, Chronic diarrhea, Poor appetite, Weight loss, Macroglossia ORPHA:2221
Primary Myelofibrosis
Anorexia, Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatospl... ORPHA:824
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Nausea and vomiting, Neutropenia ORPHA:79477
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... ORPHA:449432
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Decreased T cell activ... ORPHA:179494
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Bone Dysplasia, Lethal Holmgren Type
Anemia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting ORPHA:1842
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Abnormality of the spleen, Weight... ORPHA:33276
Plague
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... ORPHA:707
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Abdominal pain, Splenomegaly, Weight loss, Nau... ORPHA:33577
Acute Promyelocytic Leukemia
Anorexia, Anemia, Pancytopenia, Stomatitis, Abdominal pain, Leukocytosis, Leukopenia, Thrombocyto... ORPHA:520
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Microsporidiosis
Intermittent diarrhea, Cachexia, Chronic diarrhea, Sinusitis, Anorexia, Myocarditis, Cholangitis,... ORPHA:2552
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis... ORPHA:2968
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Intestinal obstruction, Gastroesophageal reflux, Myositis, Abdominal pain, Skin rash... ORPHA:183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Elevated circulating creatine kinase concentr... OMIM:201475
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Thyroiditis, Increased circulating IgA level, Punctate keratitis... OMIM:617388
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency 55
Lymphadenopathy, Recurrent infections, Diarrhea, Eczematoid dermatitis, Lymphopenia, Recurrent sk... OMIM:617827
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Abnormal lymphocyte physi... ORPHA:1830
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Dyspepsia, Gastroesophageal reflux, Nasogastric tube feeding, Abnormal gastr... ORPHA:1018
Christianson Syndrome
Feeding difficulties in infancy, Cachexia, Dysphagia, Gastroesophageal reflux ORPHA:85278
Al Amyloidosis
Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Anemia, In... ORPHA:85443
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Anemia, Episodic vomiting, Abdominal pain, Ileoileal intussusc... OMIM:619377
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, Elevated cir... OMIM:242840
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Iron deficiency anemia, Melena, Bloo... ORPHA:100075
Idiopathic Bronchiectasis
Acute infectious pneumonia, Cachexia, Bronchiectasis ORPHA:60033
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism ORPHA:353298
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Pancreatitis, Protein avoidance, Diarrhea, Intraalveolar phospholipid a... OMIM:222700
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Generalized Pustular Psoriasis
Sepsis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hypona... ORPHA:247353
Juvenile Huntington Disease
Weight loss ORPHA:248111
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Recurrent in... ORPHA:232
Polymyositis
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Arthritis, Elevat... ORPHA:732
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tra... ORPHA:91139
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... ORPHA:2035
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n... ORPHA:79076
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function, Decreased serum zinc OMIM:201100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Abnormal large intestine physiology, Abdominal pain, T... ORPHA:171
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Anemia, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Chronic neutr... ORPHA:79259
Q Fever
Anorexia, Myocarditis, Anemia, Increased circulating antibody level, Hepatitis, Granuloma, Perica... ORPHA:781
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Increased circulating ... OMIM:181000
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Anemia, Diarrhea, Cach... ORPHA:275761
Perry Syndrome
Weight loss ORPHA:178509
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Diarrhea, Weight loss ORPHA:411703
Glycogen Storage Disease Ib
Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Splenomegaly, Gout, ... OMIM:232220
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Macrocytic anemia, Diarrhea, Abdominal pain, Celiac disease, Constip... ORPHA:199299
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatitis ORPHA:381
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgA level, Decreased... OMIM:620040
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Granuloma, Inflammation of the large int... ORPHA:562639
Myelofibrosis
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Glossitis, Chronic diarrhea, Furrowed tongue, Failure to thrive, Pustule, Po... ORPHA:37
Legionnaires Disease
Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hep... ORPHA:549
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Abdominal distention, Anemia, Pancreatitis, Episodic abdominal pain, Elevated circulati... ORPHA:370348
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, Cryptorchidism ORPHA:99812
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Cachexia, Elevated circulating creatine kinase concentration,... ORPHA:42
Kikuchi-Fujimoto Disease
Anorexia, Myocarditis, Abnormality of the gastrointestinal tract, Abnormal lymph node morphology,... ORPHA:50918
Pyomyositis
Recurrent cutaneous abscess formation, Sepsis, Recurrent infections, Leukocytosis ORPHA:764
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Abdominal pain, Intestinal perforation, Trache... ORPHA:537
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Aicardi-Goutieres Syndrome 7
Hematemesis, Pneumonia, Anemia, Increased circulating antibody level, Pancytopenia, Diarrhea, Art... OMIM:615846
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Cachexia, Failure to thrive in infancy, Feeding difficulties OMIM:616801
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis, Weight loss ORPHA:90060
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Neuroblastoma, Susceptibility To, 1
Anemia, Diarrhea, Abdominal pain, Failure to thrive, Weight loss OMIM:256700
Kindler Epidermolysis Bullosa
Cheilitis, Anemia, Periodontitis, Esophagitis, Inflammation of the large intestine, Conjunctiviti... ORPHA:2908
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Cystic Echinococcosis
Increased circulating antibody level, Abdominal symptom, Splenic cyst, Peritoneal abscess, Weight... ORPHA:400
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Diarrhea, Abdominal pain, Conjunctivitis, Thro... ORPHA:36426
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Dysphagia, Weight loss ORPHA:216866
Whipple Disease
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Anemia, Diarrhea, Cachexia, Abdominal pain, A... ORPHA:3452
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Recurrent infections, Neutropenia OMIM:258360
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Hyperactivity, Bone marrow hypocellularity, Exocrine pancreatic insuffic... OMIM:617052
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Anemia, Recurrent infections, Recurrent urinary tract infections, Leukocy... ORPHA:99843
Postinfectious Vasculitis
Anorexia, Gastrointestinal inflammation, Increased circulating antibody level, Elevated circulati... ORPHA:48435
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Anal atresia ORPHA:3242
Riddle Syndrome
Arthritis, Decreased circulating IgG level, Recurrent viral infections, Recurrent pneumonia, Recu... ORPHA:420741
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Cachexia, Chronic diarrhea, Malabsorption ORPHA:3217
Caroli Disease
Anorexia, Liver abscess, Cholangitis, Abdominal rigidity, Abdominal pain, Esophageal varix, Leuko... ORPHA:53035
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Recurrent infections, Leukocytosis, Reticulocytosis, Poikilocytosis, De... OMIM:618278
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Abdominal pain, Splenic absces... ORPHA:533
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Non-Functioning Paraganglioma
Nausea, Episodic abdominal pain, Weight loss ORPHA:94080
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arteritis, Abdominal pain, Intestinal ... ORPHA:679
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphadenopathy, Hepatomegaly, Abnormality of the spleen ORPHA:79456
Granulomatosis With Polyangiitis
Chronic otitis media, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunctivitis, Granulomat... OMIM:608710
Bloom Syndrome
Cheilitis, Recurrent tonsillitis, Recurrent infections, Recurrent urinary tract infections, Skin ... ORPHA:125
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Feeding difficulties in infancy, Weight loss, Feeding diff... ORPHA:704
Multiple Myeloma
Anemia, Increased circulating IgG level, Functional abnormality of the gastrointestinal tract, In... ORPHA:29073
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Mcdonough Syndrome
Cachexia ORPHA:2471
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Iron deficiency anemia, Episodic vomiting, Episodic abdominal pain, Small ... ORPHA:100078
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased circulating IgG level, Increased circulating IgA le... ORPHA:2298
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy... ORPHA:100086
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the rectum, Stomach cancer, Abdominal pain, Hepatocellul... ORPHA:440437
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Protruding tongue, Failure to thrive, Splenomegaly, Dysphagia OMIM:230600
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Aicardi-Goutieres Syndrome 9
Anemia, Acute pancreatitis, Chilblains, Failure to thrive, Pericarditis, Hepatosplenomegaly, Feed... OMIM:619487
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Loeffler Endocarditis
Eosinophilia, Pericarditis, Weight loss ORPHA:75566
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Lymphopenia, Bronchiectasis... OMIM:619708
X-Linked Creatine Transporter Deficiency
Constipation, Cachexia, Aganglionic megacolon, Ileus ORPHA:52503
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Igg4-Related Kidney Disease
Decreased liver function, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level,... ORPHA:449395
Alveolar Echinococcosis
Decreased liver function, Liver abscess, Anemia, Increased circulating antibody level, Cholangiti... ORPHA:284
Gm1 Gangliosidosis
Gastroesophageal reflux, Aspiration pneumonia, Failure to thrive, Hepatosplenomegaly, Dysphagia, ... ORPHA:354
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology ORPHA:884
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Elevated c... ORPHA:90068
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Abdominal pain, Leukocytosis, Polycythemia, Splenome... ORPHA:729
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/... ORPHA:93111
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Thymic Carcinoma
Weight loss ORPHA:99868
Symptomatic Form Of Hfe-Related Hemochromatosis
Abdominal pain, Arthritis, Hepatocellular carcinoma, Chronic hepatic failure, Splenomegaly, Weigh... ORPHA:465508
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Weight loss, Gastrointestinal dysmot... ORPHA:330001
Granulomatosis With Polyangiitis
Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati... ORPHA:900
Graves Disease
Weight loss OMIM:275000
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Immunodeficiency 47
Decreased circulating total IgG, Recurrent infections, Chronic decreased circulating total IgG, D... OMIM:300972
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Sickle Cell Disease
Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Increased red cell sickling tendenc... OMIM:603903
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Normochromic anemia, ... ORPHA:97280
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Elevated circulating C-reactive protein concentration, Myositis, Abd... ORPHA:93672
Neuroblastoma
Abdominal distention, Anemia, Chronic diarrhea, Thrombocytopenia, Weight loss, Increased circulat... ORPHA:635
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Dysphagia, Fatal liver failure in i... OMIM:257220
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... OMIM:602782
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:612852
Meckel Syndrome
Accessory spleen, Asplenia, Cryptorchidism, Male pseudohermaphroditism, True hermaphroditism, Con... ORPHA:564
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Cachexia, High palate, Gastroesophageal reflux OMIM:618186
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Decreased ... OMIM:612301
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Solitary Fibrous Tumor
Constipation, Neoplasm of the liver, Weight loss, Reduced C-peptide level ORPHA:2126
Urachal Cyst
Severe infection, Abscess, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:488
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Poor appetite, Weight loss, Pneumonia, Protracted diarrhea, Hepatic failure ORPHA:97287
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Feeding difficulties, Nasogastric tube feeding ... ORPHA:371364
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Leukocytosis, Vomiting, Weight loss, Thrombocytosis ORPHA:134
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Anemia, Episodic vomiting, Diarrhea, Acute pancreatitis, Leukocytosis, Reye syndrome-li... ORPHA:20
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:1451
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Failure to thrive, Weight loss, Bronchiec... ORPHA:79128
Malt Lymphoma
Anemia, Abdominal pain, Posterior uveitis, Constipation, Weight loss, Nausea and vomiting ORPHA:52417
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis, Antinuclear antibod... ORPHA:206572
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Feeding difficulties, Weight loss, Malnutrition, Odynophagia ORPHA:221098
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Recurrent respiratory infections, Decreased circulating IgA level, Hepatitis OMIM:613385
Fumarase Deficiency
Necrotizing enterocolitis, High palate, Failure to thrive, Polycythemia, Hepatic failure OMIM:606812
Autoimmune Pulmonary Alveolar Proteinosis
Intraalveolar phospholipid accumulation, Weight loss, Abnormal circulating protein concentration ORPHA:747
Carney Triad
Anorexia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Splenomegaly, ... OMIM:249100
Lysinuric Protein Intolerance
Steatorrhea, Anemia, Increased circulating antibody level, Hemophagocytosis, Pancreatitis, Diarrh... ORPHA:470
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Elevated circulati... ORPHA:49041
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Lymphadenopathy, Accessory spleen, Microvesic... OMIM:619418
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:36412
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Hypochromic microcyti... ORPHA:97283
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Blau Syndrome
Iritis, Flexion contracture of toe, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Ca... OMIM:186580
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundic... ORPHA:100085
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Episodic abdominal pain, Vomiting, Failure to thrive, Constipation, Weight loss ORPHA:361
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Sinusitis, Decreased circulat... OMIM:208900
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97278
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Secondary Intestinal Lymphangiectasia
Recurrent infections, Decreased circulating antibody level, Decreased circulating IgG1 level, Dec... ORPHA:90363
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Kaposiform Lymphangiomatosis
Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lymphatic vessel morpho... ORPHA:464329
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Epis... ORPHA:913
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level OMIM:606056
Bloom Syndrome
Malar rash, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronch... OMIM:210900
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Nocardiosis
Anorexia, Scleritis, Liver abscess, Thyroiditis, Lymphadenitis, Vomiting, Pericarditis, Keratitis... ORPHA:31204
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def... OMIM:137920
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hypergonadotropic hypogonadism, Bone marrow hypocellularity, Attention deficit ... OMIM:227646
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Behçet Disease
Anorexia, Gastrointestinal hemorrhage, Acne, Pancreatitis, Recurrent aphthous stomatitis, Myositi... ORPHA:117
Giant Cell Arteritis
Anorexia, Gastrointestinal infarctions, Glossitis, Abdominal pain, Arthritis, Pericarditis, Weigh... ORPHA:397
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Recurrent pneumonia, Decreased circulating IgA level OMIM:613327
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:79330
Acute Adrenal Insufficiency
Anorexia, Normocytic anemia, Diarrhea, Abdominal pain, Increased circulating renin level, Failure... ORPHA:95409
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Mixed Connective Tissue Disease
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Addison Disease
Anorexia, Normocytic anemia, Diarrhea, Abdominal pain, Celiac disease, Increased circulating reni... ORPHA:85138
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Panniculitis, Increased circulating antibody level, Increased circulating... OMIM:256040
H Syndrome
Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hypogonadism, Microp... ORPHA:168569
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatic fibr... OMIM:263200
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Myositis, Thyroiditis, Increased circulating IgA level, Xeros... ORPHA:79078
Poems Syndrome
Increased circulating antibody level, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:2905
Aredyld Syndrome
Cachexia, Splenomegaly ORPHA:1133
Grfoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the small in... ORPHA:97261
Silver-Russell Syndrome
Gastroesophageal reflux, Cachexia, Constipation, Obesity, Feeding difficulties, Failure to thrive... ORPHA:813
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Bone mar... ORPHA:699
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly, Dysphagia OMIM:607625
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis, Pancreatic fibr... OMIM:616263
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Fluctuating hepatomegaly OMIM:610377
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Rett Syndrome
Constipation, Cachexia, Gastroesophageal reflux OMIM:312750
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Waldenström Macroglobulinemia
Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:33226
Infantile Krabbe Disease
Gastroesophageal reflux, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Nasogastric... ORPHA:206436
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Perry Syndrome
Weight loss OMIM:168605
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Depression, Orchitis, Splenomegaly, Peritonitis ORPHA:342
1P36 Deletion Syndrome
Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis... ORPHA:1606
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Myeloproliferative disorder, Inflammation ... ORPHA:70591
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Rift Valley Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Hepatitis, Infectiou... ORPHA:319251
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Renal Nutcracker Syndrome
Abdominal pain, Anemia, Weight loss, Nausea ORPHA:71273
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Nausea and vomiting, Xerostomia, Tongue atrophy ORPHA:803
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Feeding difficulties ORPHA:217346
Hereditary Xanthinuria
Rheumatoid arthritis, Arthropathy, Gout ORPHA:3467
Distal Deletion 12Q
Obsessive-compulsive trait, Annular pancreas, Biliary atresia, Hyperactivity, Unilateral cryptorc... ORPHA:96149
Yellow Fever
Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Leukocytosis, Elevated cir... ORPHA:99829
Shwachman-Diamond Syndrome 2
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Hermansky-Pudlak Syndrome
Anorexia, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Weight loss, Neutropenia ORPHA:79430
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of the rectu... ORPHA:144
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Chronic Graft Versus Host Disease
Anorexia, Fasciitis, Keratoconjunctivitis sicca, Abnormal esophagus physiology, Gastroesophageal ... ORPHA:99921
Sporadic Pheochromocytoma/Secreting Paraganglioma
Nausea, Episodic abdominal pain, Weight loss ORPHA:276621
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchidism OMIM:147791
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... OMIM:229850
Systemic Lupus Erythematosus
Anorexia, Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Thrombocytopenia, Leukopenia, Wei... ORPHA:536
8P23.1 Microdeletion Syndrome
Obesity, High palate, Weight loss ORPHA:251071
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Velocardiofacial Syndrome
Hypocalcemia, Recurrent infections, Impaired T cell function OMIM:192430
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss, Mildly elevated creatine ki... OMIM:607459
Vipoma
Anorexia, Normochromic anemia, Episodic abdominal pain, Abnormal gastrointestinal motility, Poor ... ORPHA:97282
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Elevated c... ORPHA:91500
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Abdominal pain, Anal can... ORPHA:424016
Adrenocortical Carcinoma
Abdominal pain, Increased body weight, Weight loss ORPHA:1501
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Exocrine pancreatic insuffi... ORPHA:116
Farber Disease
Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Hepatic fib... ORPHA:333
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Allergic rhinitis, Eczematoid dermatitis OMIM:618162
Pearson Marrow-Pancreas Syndrome
Anorexia, Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic fib... OMIM:557000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Hilar lymph node enlargement, Hepatomegaly, Cholestasis OMIM:620233
Erdheim-Chester Disease
Anemia, Abdominal pain, Skin rash, Weight loss, Nausea and vomiting, Osteomyelitis ORPHA:35687
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Pituitary adenoma, Abnormal fear-induced behavior OMIM:219090
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Dubowitz Syndrome
Recurrent infections, Eczematoid dermatitis, Decreased circulating IgG level, Otitis media, Decre... OMIM:223370
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Anal stenosis, Anorectal anomaly, Cachexia, Chronic ... ORPHA:647
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Jacobsen Syndrome
Attention deficit hyperactivity disorder, Bone marrow hypocellularity, Annular pancreas, Cryptorc... ORPHA:2308
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid... OMIM:193300
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Biliary... ORPHA:731
17Q12 Microdeletion Syndrome
Shawl scrotum, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Congenital Syphilis
Prolonged neonatal jaundice, Pancreatitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col... OMIM:617137
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Attention deficit hyperactivity disorder, Annular pancreas, Cryptorchidism, Hypospadias OMIM:616975
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Hypoalbuminemia OMIM:610965
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Dysphagia, Weight loss ORPHA:411602
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Myelitis, Abnormal circulating ... ORPHA:297
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Sialadenitis, ... ORPHA:449563
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Cachexia, Hamartomatous polyposis, Abnormal large intestine ... ORPHA:109
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis OMIM:263520
Hereditary Pheochromocytoma-Paraganglioma
Nausea, Episodic abdominal pain, Weight loss ORPHA:29072
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Hypogonadism OMIM:268400
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, High palate ORPHA:85293
Fanconi Anemia
Aganglionic megacolon, Anemia, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, High palate,... ORPHA:84
Malakoplakia
Follicular hyperplasia, Prostate neoplasm, Orchitis ORPHA:556
Neuroendocrine Neoplasm Of Appendix
Anorexia, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectio... ORPHA:100079
Trisomy 8P
Annular pancreas, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Crimean-Congo Hemorrhagic Fever
Anorexia, Agitation, Hepatomegaly, Jaundice, Lymphadenopathy, Emotional lability, Parotitis, Acut... ORPHA:99827
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Obesity, Weight loss, Constipation ORPHA:79102
Oculopharyngodistal Myopathy 1
High palate, Dysphagia, Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgA level, Decreased... OMIM:620005
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Parathyroid Carcinoma
Peptic ulcer, Pancreatitis, Episodic abdominal pain, Constipation, Dysphagia, Weight loss, Nausea... ORPHA:143
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Mucolipidosis Type Ii
Hepatosplenomegaly, Splenomegaly, Weight loss, Otitis media, Protuberant abdomen, Gastrostomy tub... ORPHA:576
Dermatomyositis
Myocarditis, Myositis, Abnormal eosinophil morphology, Skin rash, Arthritis, Elevated circulating... ORPHA:221
Congenital Fiber-Type Disproportion Myopathy
High palate, Aspiration pneumonia, Failure to thrive, Poor appetite, Dysphagia, Weight loss, Feed... ORPHA:2020
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Abnormal morphology of femal... ORPHA:538
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99226
Turner Syndrome
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:881
Sarcoidosis
Decreased liver function, Abnormality of the gastrointestinal tract, Anemia, Keratoconjunctivitis... ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Abnormal lymph node morphology, Depression, Pheochromocytoma, Emotional lability, Neopl... ORPHA:99889
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, Cleft hard palate, Recurrent infections, Decreased... ORPHA:2152
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hypospadias, Bicornuate uterus, Asplenia, Pulmonary lymphangiectasia OMIM:265380
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Anorexia, Peptic ulcer, Melena, Gastroesophageal reflux, Diarrhea, A... ORPHA:652
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis ORPHA:97297
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the gastrointestinal tract... ORPHA:110
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Dysphagia, Hepatoblastoma, Streak ovary, Micropenis ORPHA:798
Trisomy 18
Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Cleft palate ORPHA:3380
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Primary Sjögren Syndrome
Vaginal dryness, Lymphadenopathy, Chronic active hepatitis, Depression, Parotitis, Biliary cirrho... ORPHA:289390
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Compulsive behavi... ORPHA:353281
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Cachexia, Bacterial endocarditis, Esophageal varix, Hepatosplenomegaly, Abn... ORPHA:2072
Marburg Hemorrhagic Fever
Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Orchitis, Aggressive behavior ORPHA:99826
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Cachexia, Short hard palate ORPHA:1969
Schwartz-Jampel Syndrome
Cachexia, High palate, Decreased body weight, Elevated circulating creatine kinase concentration,... ORPHA:800
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Weight loss, Bronchiectasis ORPHA:60025
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Cystinosis, Nephropathic
Failure to thrive, Exocrine pancreatic insufficiency, Dysphagia, Splenomegaly, Weight loss, Failu... OMIM:219800
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Posterior uve... ORPHA:90340
Digeorge Syndrome
Recurrent otitis media, Anemia, Hypocalcemia, Recurrent infections, Hypoplasia of the thymus, Imp... OMIM:188400
Camurati-Engelmann Disease
Anorexia, Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly, Feeding difficulties in infancy ORPHA:1328
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Choreoacanthocytosis
Arthritis, Abnormal erythrocyte enzyme concentration or activity, Elevated circulating creatine k... ORPHA:2388
African Trypanosomiasis
Myocarditis, Iritis, Myelitis, Diarrhea, Optic neuritis, Vomiting, Nausea, Pericarditis, Conjunct... ORPHA:3385
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353277
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:667
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Vomiting, Weight loss ORPHA:91347
Leptospirosis
Anorexia, Jaundice, Hepatomegaly, Lymphadenopathy, Hepatitis ORPHA:509
Seckel Syndrome
Cachexia ORPHA:808
Stickler Syndrome
Chronic otitis media, Gastroesophageal reflux, Short hard palate, Cachexia, Glossoptosis, Slender... ORPHA:828
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Seborrheic dermatitis, Decreased circulating total IgM, Superficial dermal perivascular inflammat... ORPHA:83617
Cockayne Syndrome
Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Malar rash, Cachexia, Splenomegaly,... ORPHA:191
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Cachexia, Eosinophilia, Splenomegaly, Malnutri... ORPHA:75565
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Vomiting, Failure to thrive, Feeding difficulties, Weight loss, Acne ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, High palate, Ankyloglossia, Osteoarthritis, Weight loss ORPHA:740
Marfan Syndrome
High, narrow palate, Cachexia, Slender build, Cleft palate, Arthralgia/arthritis ORPHA:558
Pmm2-Cdg
Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318
Goodpasture Syndrome
Anemia, Weight loss, Glomerulonephritis OMIM:233450
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Viss Syndrome
Increased circulating IgG level, Chronic gastritis, Increased circulating IgE level, Atopic derma... OMIM:619472
Proteus Syndrome
Thymus hyperplasia, Cachexia, Splenomegaly ORPHA:744
Norrie Disease
Cachexia, Failure to thrive ORPHA:649

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term necrosis Nod2em1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term atrophy Nod2em1(IMPC)Mbp HOM Early adult

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 Nod2.

No publications found that use IMPC mice or data for Nod2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Nod2tm47893(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nod2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Nod2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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