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Gene: Nod2 MGI:2429397

Gene Summary

Name:

nucleotide-binding oligomerization domain containing 2

Synonyms:

Nlrc2, F830032C23Rik, Card15

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Nod2^em1(IMPC)Mbp	HOM	Early adult	9.05×10^-05
abnormal testis morphology	Nod2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Nod2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased thigmotaxis	Nod2^em1(IMPC)Mbp	HOM	Early adult	7.60×10^-05
decreased anxiety-related response	Nod2^em1(IMPC)Mbp	HOM	Early adult	7.61×10^-05
abnormal lymph node morphology	Nod2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal pancreas morphology	Nod2^em1(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.

Human diseases associated with Nod2 (4 diseases)
Human diseases predicted to be associated with Nod2 (956 diseases)

The table below shows human diseases associated to Nod2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X...	ORPHA:90340

The table below shows human diseases predicted to be associated to Nod2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Glycoprotein Storage Disease	Gout	OMIM:232900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,...	OMIM:300635
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Recurrent upper respiratory tract inf...	OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:619281
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop...	OMIM:615767
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ...	OMIM:609529
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le...	OMIM:619773
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir...	OMIM:618986
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr...	ORPHA:930
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Schizophrenia 15	Hyperactivity	OMIM:613950
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 62	Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronchiectasis, Decreas...	OMIM:618459
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C...	ORPHA:911
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chronic mucocutane...	OMIM:608971
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,...	OMIM:618394
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci...	OMIM:618108
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem...	OMIM:300400
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, Recurrent infections	OMIM:616941
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br...	OMIM:617638
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep...	OMIM:604416
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o...	OMIM:614700
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Fe...	ORPHA:98813
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity	ORPHA:88643
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis	OMIM:260570
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Decreased circulatin...	ORPHA:33355
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym...	OMIM:619126
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, ...	OMIM:616050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co...	OMIM:240500
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Recurrent vira...	OMIM:209920
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Recurrent infections, Lymphadenopathy, Decreased circulating antibody level, ...	OMIM:618261
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc...	OMIM:615592
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,...	OMIM:269840
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat...	OMIM:209950
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Recurrent cand...	ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega...	OMIM:618935
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy	OMIM:312500
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Recurrent ...	OMIM:610163
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level	OMIM:300636
Immunodeficiency 96	Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re...	OMIM:619774
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi...	ORPHA:2686
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ...	ORPHA:141152
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Abdominal pa...	ORPHA:2494
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased...	OMIM:620045
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs...	OMIM:620282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Decreased circul...	ORPHA:397596
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ...	ORPHA:540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colit...	ORPHA:37042
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ...	OMIM:614069
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, BCGosis, ...	OMIM:618963
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyng...	ORPHA:100083
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Impaired T cell fu...	OMIM:613179
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level	OMIM:233650
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas...	OMIM:613662
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu...	OMIM:611762
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:619824
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Tuberculosis	Weight loss	ORPHA:3389
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl...	ORPHA:70578
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ...	ORPHA:388
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Papular Xanthoma	Histiocytosis	ORPHA:158008
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop...	ORPHA:507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit...	OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir...	OMIM:618282
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory ...	OMIM:615577
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal pain, Splenom...	ORPHA:100025
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H...	ORPHA:83471
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch...	ORPHA:103910
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Sepsis, Abnorma...	ORPHA:178320
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ...	ORPHA:158061
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anemia, Conjunctivitis, He...	OMIM:603552
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,...	ORPHA:67
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig...	OMIM:617744
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-reactive protein co...	OMIM:613011
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Feeding difficulties, Weight loss	ORPHA:79238
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increa...	OMIM:602450
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Recurrent viral infections, T lymphocytopenia, Hemolytic anemia, Psoriasiform de...	OMIM:606367
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ...	OMIM:619752
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Selective Igm Deficiency	Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent...	ORPHA:331235
Immunodeficiency 92	Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased proportion of cla...	OMIM:619652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG level, Psoriasif...	ORPHA:183675
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Uveitis, Hepatosplenome...	OMIM:615122
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Pfapa Syndrome	Nausea and vomiting, Abdominal pain, Malabsorption, Splenomegaly, Weight loss, Arthritis, Infecti...	ORPHA:42642
Agammaglobulinemia, X-Linked	Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious en...	OMIM:300755
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Elevated circulating C-reactive protein concentration, Hepa...	ORPHA:158057
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Coffin-Siris Syndrome 8	Cryptorchidism, Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:618362
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,...	OMIM:615207
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ...	OMIM:614602
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni...	ORPHA:47
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr...	ORPHA:398063
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenomegaly, Lymphad...	OMIM:615895
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect...	OMIM:613960
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel...	OMIM:619375
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot...	ORPHA:324964
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi...	ORPHA:391487
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating total IgM, Decrea...	OMIM:619510
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react...	OMIM:614034
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Wolman Disease	Nausea and vomiting, Cachexia, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnut...	ORPHA:75233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill...	ORPHA:79124
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Cervical lymp...	ORPHA:3392
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent skin infections, ...	OMIM:620210
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno...	OMIM:612840
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, ...	OMIM:603909
Shigellosis	Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit...	ORPHA:810
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,...	OMIM:616433
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Arthriti...	ORPHA:37748
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea...	OMIM:301220
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe...	OMIM:616809
Morm Syndrome	Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Elevated circulating C-reacti...	ORPHA:90051
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F...	ORPHA:2137
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic...	ORPHA:35858
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Primary Intestinal Lymphangiectasia	Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, ...	ORPHA:90362
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Abdominal pain, Hyp...	ORPHA:98850
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Immunodeficiency 32A	Lymphadenitis, Granuloma, Recurrent infections, Lymphadenopathy	OMIM:614893
Immunodeficiency 22	Pericarditis, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Pann...	OMIM:615758
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism	ORPHA:2849
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu...	OMIM:116920
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Wiskott-Aldrich Syndrome	Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the sur...	OMIM:301000
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat...	ORPHA:449400
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan...	OMIM:619644
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chronic diarrhea,...	OMIM:614576
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Invasive parasitic infection, Increased circulating ferritin ...	ORPHA:158048
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Recurrent infections, Hyperuricemia, Neutropenia, ...	OMIM:617056
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe...	ORPHA:47612
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi...	ORPHA:77297
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosin...	OMIM:615387
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,...	ORPHA:298
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Pheochromocyt...	ORPHA:1332
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy...	OMIM:304790
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur...	OMIM:619573
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac...	OMIM:300624
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:85414
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden...	ORPHA:83313
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Isaacs Syndrome	Weight loss	ORPHA:84142
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Increased hepatitis B virus...	ORPHA:90003
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi...	ORPHA:131
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Anorexia, Abdominal pain, Splenomegaly, Malabsorption, Diarrhea, ...	ORPHA:2930
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Vertical Talus, Congenital	Arthritis	OMIM:192950
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Thyroid Lymphoma	Goiter, Lymphadenopathy, Dysphagia	ORPHA:97285
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc...	OMIM:615816
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab...	ORPHA:39812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hemophago...	OMIM:618398
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Pneumocystosis	Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Increased circulating antibody level,...	ORPHA:723
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Splenome...	OMIM:260920
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Mulibrey Nanism	Cachexia	ORPHA:2576
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Anemia, Neoplasm of the liver, T...	ORPHA:69077
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou...	ORPHA:228402
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenomegaly, Vomitin...	OMIM:257200
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Attrv30M Amyloidosis	Diarrhea, Constipation, Weight loss	ORPHA:85447
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Recurrent infections, Lymphadenop...	OMIM:617591
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Syndromic Diarrhea	Dependency on intravenous nutrition, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean p...	ORPHA:84064
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu...	ORPHA:3260
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatos...	ORPHA:1333
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis...	ORPHA:292
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun...	ORPHA:309031
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte...	OMIM:603041
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr...	ORPHA:1572
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi...	ORPHA:90038
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Goiter	OMIM:275000
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular...	ORPHA:88
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Abdominal pa...	ORPHA:98849
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th...	ORPHA:2470
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in...	ORPHA:169090
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop...	ORPHA:100026
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Cryptogenic Organizing Pneumonia	Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi...	OMIM:212750
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl...	ORPHA:544482
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy, Dysphagia	ORPHA:142
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin...	ORPHA:160
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,...	ORPHA:514
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Macroglossia, Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei...	ORPHA:139402
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe infecti...	ORPHA:36238
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm...	ORPHA:424019
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der...	ORPHA:171876
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Poor appetite, Weight loss	ORPHA:312
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit...	ORPHA:1304
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ...	ORPHA:767
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Weight loss, Keratoconjunctivitis, Thrombocytopenia, Perio...	ORPHA:79242
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:2584
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym...	OMIM:614162
Wilson Disease	Acute hepatic failure, Splenomegaly, Increased body weight, Hepatitis, Weight loss, Anemia, Arthr...	ORPHA:905
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy	ORPHA:858
Takayasu Arteritis	Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ...	ORPHA:3287
Moynahan Syndrome	Cachexia	ORPHA:2574
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy	OMIM:609981
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Abnormality of the gastrointestinal tract...	ORPHA:85450
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri...	ORPHA:66628
Erythrokeratodermia Variabilis	Skin rash, Weight loss	ORPHA:317
Hyperlipoproteinemia, Type Id	Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ...	ORPHA:221139
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Huntington Disease-Like 2	Weight loss	OMIM:606438
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Pustule, ...	OMIM:615934
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ...	ORPHA:171
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, Splenome...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalb...	OMIM:267700
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri...	ORPHA:179494
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa...	ORPHA:35710
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis	ORPHA:2221
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Hyperactivity, Aggressive behavior	OMIM:252920
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Weight loss, Failure to thrive, Anemia	ORPHA:1842
Sea-Blue Histiocytosis	Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight...	ORPHA:33276
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight...	ORPHA:677
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I...	ORPHA:2552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Abdomin...	OMIM:615688
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Elevated circulating creat...	OMIM:201475
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnorm...	ORPHA:33577
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Pancreatitis	ORPHA:188
Griscelli Syndrome Type 2	Nausea and vomiting, Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Primary Myelofibrosis	Hepatomegaly, Anorexia, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction...	ORPHA:183
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Abdominal pain, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropeni...	ORPHA:520
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp...	ORPHA:707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ...	OMIM:242860
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Thyroiditis, Uveitis, Increased circulating IgG level, Keratocon...	OMIM:617388
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Low frustration tolerance, Microphallus, Micropenis...	OMIM:300486
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:98848
Neuroendocrine Tumor Of The Rectum	Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema...	ORPHA:100082
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Recurrent infections, L...	OMIM:617827
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m...	ORPHA:449432
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperlipidemia, Recur...	ORPHA:1830
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti...	ORPHA:29207
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Bone Marrow Failure Syndrome 3	Hyperactivity, Pancreatic steatosis, Cryptorchidism, Bone marrow hypocellularity, Hyperechogenic ...	OMIM:617052
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat...	OMIM:242840
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sepsis, Hypoal...	ORPHA:247353
Lysinuric Protein Intolerance	Protein avoidance, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, ...	OMIM:222700
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma...	ORPHA:97289
Juvenile Huntington Disease	Weight loss	ORPHA:248111
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Keratitis, Esophageal neoplasm, Weight loss, Abn...	ORPHA:1018
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t...	ORPHA:449291
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-...	ORPHA:85443
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, An...	ORPHA:732
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Legionnaires Disease	Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Pancre...	ORPHA:549
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Decreased serum zinc, Impaired T cell function, Recurrent candida infections	OMIM:201100
Acrodermatitis Enteropathica	Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Weight l...	ORPHA:37
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Neuroendocrine Tumor Of The Colon	Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Prot...	ORPHA:100080
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the...	OMIM:232220
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Poor appetite, Anorexia, Bowel urgency, Hematemesis, Lack of bowel sounds, W...	ORPHA:100075
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Citrullinemia Type Ii	Restlessness, Hyperactivity, Hepatomegaly, Abnormal eating behavior, Aggressive behavior, Delayed...	ORPHA:247585
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating alpha-f...	ORPHA:370348
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis...	ORPHA:227990
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, T...	ORPHA:79259
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Perry Syndrome	Weight loss	ORPHA:178509
Roifman Syndrome	Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, I...	OMIM:181000
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow foam cells, Cachexia, Hypersplen...	ORPHA:275761
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Abscess, ...	ORPHA:36234
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Splenomegaly, Myocardi...	ORPHA:781
Caroli Disease	Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Abdominal pain, Splenomegaly, Leukocyto...	ORPHA:53035
Nephroblastoma	Neoplasm of the liver, Abdominal pain, Weight loss	ORPHA:654
Roifman Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased...	OMIM:620040
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Huntington Disease	Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss	ORPHA:399
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis...	ORPHA:227982
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Vomiting, Decreased liver...	ORPHA:42
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Cachexia, Abdominal pain, Splenome...	ORPHA:3452
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Elevated circu...	ORPHA:50918
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections	ORPHA:764
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain...	ORPHA:199299
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:381
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties	OMIM:616801
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Weight loss	ORPHA:411703
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin...	ORPHA:537
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Neutrophilia, Chronic lymphocytic meningitis, Abnormal isohem...	ORPHA:99843
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia	OMIM:258360
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia	OMIM:256700
Riddle Syndrome	Pneumonia, Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Arth...	ORPHA:420741
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti...	OMIM:618278
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis...	OMIM:615846
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ...	ORPHA:679
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Cystic Echinococcosis	Abdominal symptom, Eosinophilia, Abscess, Weight loss, Membranous nephropathy, Increased circulat...	ORPHA:400
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Renpenning Syndrome	High, narrow palate, Cleft palate, Cachexia, Anal atresia	ORPHA:3242
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Bloom Syndrome	Recurrent urinary tract infections, Skin rash, Pneumonia, Recurrent tonsillitis, Cheilitis, Uveit...	ORPHA:125
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Aspiration pneumonia, Weight loss	ORPHA:216866
Non-Functioning Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:94080
Wild Type Attr Amyloidosis	Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia...	ORPHA:330001
Lig4 Syndrome	Cryptorchidism, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy	ORPHA:99812
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi...	ORPHA:36426
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly...	ORPHA:2035
Mcdonough Syndrome	Cachexia	ORPHA:2471
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Sézary Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3162
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Isolated Succinate-Coq Reductase Deficiency	Feeding difficulties in infancy, Weight loss	ORPHA:3208
Fatal Familial Insomnia	Constipation, Dysphagia, Weight loss	OMIM:600072
Lynch Syndrome	Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorp...	ORPHA:144
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic...	OMIM:608710
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia...	OMIM:619708
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Hepatosplenomegaly, Weight loss, ...	OMIM:619487
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA level, Osteoarthritis...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:607143
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thrive	OMIM:230600
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ...	OMIM:207800
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy	ORPHA:79456
Feingold Syndrome	Abnormality of the spleen, Annular pancreas	ORPHA:1305
Carney Triad	Mediastinal lymphadenopathy, Pheochromocytoma, Anorexia, Lymphadenopathy	ORPHA:139411
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Loeffler Endocarditis	Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Cocaine Intoxication	Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina...	ORPHA:90068
Familial Colorectal Cancer Type X	Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Hepatocellular c...	ORPHA:440437
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Abdominal pain, Splenomegaly, Increased circulating ferritin concentration, W...	ORPHA:465508
Gm1 Gangliosidosis	Splenomegaly, Weight loss, Hepatosplenomegaly, Macroglossia, Feeding difficulties, Gastroesophage...	ORPHA:354
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation, Cachexia	ORPHA:52503
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Elevated circulating alpha-fetoprotein concentration, Abdominal distention, Diarrhea, W...	ORPHA:100085
Tetrasomy 12P	Abnormal soft palate morphology, Anal atresia, Cachexia	ORPHA:884
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:619183
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of ex...	ORPHA:93111
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr...	OMIM:300972
Osteosarcoma	Weight loss	ORPHA:668
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Abdominal pain, Weight loss, Abnormal spleen morphology...	ORPHA:284
Granulomatosis With Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction...	ORPHA:900
Thymic Carcinoma	Weight loss	ORPHA:99868
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kin...	ORPHA:93672
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Poor appetit...	ORPHA:97280
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ...	OMIM:612301
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Niemann-Pick Disease, Type C1	Fatal liver failure in infancy, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dys...	OMIM:257220
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Urachal Cyst	Severe infection, Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure, Inflammation of the large intestine	ORPHA:331
Solitary Fibrous Tumor	Neoplasm of the liver, Reduced C-peptide level, Constipation, Weight loss	ORPHA:2126
Oromandibular Dystonia	Dysphagia, Weight loss	ORPHA:93958
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Narrow palate, High palate, Cachexia	OMIM:618186
Aceruloplasminemia	Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration	ORPHA:48818
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis, Bone marrow hypocellularity, Attentio...	OMIM:227646
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis, Anemia	ORPHA:52417
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Recurrent bronchitis, Bronchiectasis, Recurrent lower...	OMIM:208900
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm...	ORPHA:49041
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Weight loss, L...	ORPHA:20
Beta-Ketothiolase Deficiency	Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis	ORPHA:134
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss	ORPHA:221098
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Omenn Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:39041
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Lysinuric Protein Intolerance	Glomerulonephritis, Increased circulating ferritin concentration, Thrombocytopenia, Diarrhea, Hep...	ORPHA:470
Bronchial Neuroendocrine Tumor	Pneumonia, Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure	ORPHA:97287
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,...	ORPHA:79128
Fumarase Deficiency	Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Polycythemia	OMIM:606812
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Hepatitis, Hashimoto thyroiditis, Decreased circulating IgA level	OMIM:613385
Cinca Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:1451
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Somatostatinoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Meckel Syndrome	Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital...	ORPHA:564
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia	OMIM:200995
Familial Gestational Hyperthyroidism	Goiter, Hyperactivity, Agitation, Thyroid hyperplasia	ORPHA:99819
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Polycythemia Vera	Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Weight loss, Acute leukemia	ORPHA:729
Pelizaeus-Merzbacher Disease	Bowel incontinence, Failure to thrive in infancy, Cachexia	ORPHA:702
Ppoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97278
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Bloom Syndrome	Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash, Decreased circulating t...	OMIM:210900
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Familial Glucocorticoid Deficiency	Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Vomiting, Constipation, Failure to thrive	ORPHA:361
Behçet Disease	Nausea and vomiting, Gastrointestinal hemorrhage, Myositis, Increased inflammatory response, Acne...	ORPHA:117
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec...	ORPHA:90363
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Hyperactivity, Agitation, Thyroid hyperplasia	ORPHA:424
Waldenström Macroglobulinemia	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:33226
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:36412
Distal Deletion 12Q	Hyperactivity, Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Micropenis, Annular...	ORPHA:96149
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome...	ORPHA:464329
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu...	ORPHA:699
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lympha...	ORPHA:31204
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Giant Cell Arteritis	Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep...	ORPHA:397
H Syndrome	Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, Decreased testicular ...	ORPHA:168569
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Acute Adrenal Insufficiency	Normocytic anemia, Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Increase...	ORPHA:95409
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Glycogen Storage Disease Ic	Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ...	OMIM:232240
Addison Disease	Normocytic anemia, Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Thiamine-respon...	ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level	OMIM:613327
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi...	ORPHA:79078
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Grfoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97261
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C...	ORPHA:813
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Niemann-Pick Disease, Type C2	Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Dysphagia	OMIM:607625
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy	ORPHA:809
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss	ORPHA:2905
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptorchidism, P...	ORPHA:1606
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl...	ORPHA:424016
Vipoma	Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Weight loss, Hem...	ORPHA:97282
Perry Syndrome	Weight loss	OMIM:168605
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r...	ORPHA:206436
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Anorexia, Macronodular cirrhosis, Exocrine pancreatic insuffic...	OMIM:557000
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss, Neutropenia	ORPHA:79430
Mevalonic Aciduria	Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki...	ORPHA:99829
Bohring-Opitz Syndrome	Supernumerary nipple, Hyperechogenic pancreas	OMIM:605039
Renal Nutcracker Syndrome	Abdominal pain, Nausea, Anemia, Weight loss	ORPHA:71273
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Bone marrow hypocellularity, Attention deficit hyperactivity di...	ORPHA:2308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia, Feeding difficulties	ORPHA:217346
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th...	ORPHA:70591
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cryptorchidism, Annular pancreas, Hypospadias, Attention deficit hyperactivity disorder	OMIM:616975
Rift Valley Fever	Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ...	ORPHA:319251
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:276621
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre...	ORPHA:508533
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p...	OMIM:616263
Velocardiofacial Syndrome	Hypocalcemia, Impaired T cell function, Recurrent infections	OMIM:192430
8P23.1 Microdeletion Syndrome	High palate, Obesity, Weight loss	ORPHA:251071
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Mildly elevated creatine ki...	OMIM:607459
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Weight loss	ORPHA:1501
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Farber Disease	Hepatic fibrosis, Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Increased circu...	ORPHA:228123
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Decreased circulating total IgM, Eczema	OMIM:618162
Beckwith-Wiedemann Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohypoparathyroidis...	ORPHA:116
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas	OMIM:147791
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric...	ORPHA:99921
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl...	OMIM:229850
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Dubowitz Syndrome	Eczema, Recurrent infections, Otitis media, Decreased circulating IgG level, Decreased circulatin...	OMIM:223370
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Crescentic glomeru...	ORPHA:93126
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Ovarian neoplasm, Adrenocorticotro...	ORPHA:100079
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis	OMIM:615503
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Cachexia, Anorectal anomaly, Chroni...	ORPHA:647
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Weight loss, Anemia	ORPHA:35687
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, N...	ORPHA:99889
Familial Mediterranean Fever	Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Pancreatitis	ORPHA:342
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Anorexia, Orchitis, Splenomegaly, Jaundice, Epididymitis, Lymph...	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Dysphagia, Weight loss	ORPHA:411602
Igg4-Related Ophthalmic Disease	Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituitary, Enlarged ...	ORPHA:449563
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous...	ORPHA:109
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
X-Linked Intellectual Disability, Cabezas Type	High palate, Obesity, Cachexia	ORPHA:85293
Hereditary Pheochromocytoma-Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:29072
Histidinemia	Hyperactivity	ORPHA:2157
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Annular pancreas, Hypogonadism	OMIM:268400
Malakoplakia	Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia	ORPHA:556
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353281
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased...	OMIM:620005
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Trisomy 8P	Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropenis	ORPHA:264450
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Oculopharyngodistal Myopathy 1	High palate, Elevated circulating creatine kinase concentration, Dysphagia, Weight loss	OMIM:164310
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Parathyroid Carcinoma	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,...	ORPHA:143
Thyrotoxic Periodic Paralysis	Weight loss, Constipation, Mildly elevated creatine kinase, Obesity	ORPHA:79102
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Ambiguous genitalia	OMIM:263520
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat...	ORPHA:2020
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin...	ORPHA:99413
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Hepatosplenomegaly, Protuberant abdomen, Otitis media, Gastrostomy tub...	ORPHA:576
Mosaic Monosomy X	Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Celiac disease, High, narrow palate, Obesity, Thyroiditis, Gastroin...	ORPHA:881
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili...	ORPHA:2152
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Marburg Hemorrhagic Fever	Anorexia, Aggressive behavior, Orchitis, Jaundice, Lymphadenopathy, Pancreatitis	ORPHA:99826
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in infancy, Gastrointestinal s...	ORPHA:221
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Maculopapular exanthema, Eosinophili...	ORPHA:797
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Micropenis, Dysphagia, Hepatoblastoma, Annular pancreas	ORPHA:798
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen...	ORPHA:652
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Hepatitis, Irritability, Cholecystitis	ORPHA:2331
Trisomy 18	Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia	ORPHA:3380
Hennekam Syndrome	Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy	ORPHA:2136
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypospadias, Asplenia, Pulmonary lymphangiectasia, Bicornuate uterus, Annular pancreas	OMIM:265380
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas	ORPHA:97297
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Depression	ORPHA:324625
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal...	ORPHA:538
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
African Trypanosomiasis	Hepatomegaly, Aggressive behavior, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, He...	ORPHA:3385
Primary Sjögren Syndrome	Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatitis, Depression, Vagi...	ORPHA:289390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenome...	ORPHA:2072
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353277
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Feeding difficulties in infancy, Cl...	ORPHA:800
Systemic Lupus Erythematosus	Lymphadenopathy, Depression	ORPHA:536
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X...	ORPHA:90340
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss, Dysphagia, Ex...	OMIM:219800
Leptospirosis	Hepatomegaly, Anorexia, Jaundice, Hepatitis, Lymphadenopathy	ORPHA:509
Pulmonary Alveolar Microlithiasis	Increased circulating surfactant protein level, Bronchiectasis, Weight loss	ORPHA:60025
Camurati-Engelmann Disease	Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Hypopl...	OMIM:188400
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Parenteral Nutrition-Associated Cholestasis	Abnormality of cytokine secretion	ORPHA:567983
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Vomiting, Weight loss	ORPHA:91347
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:667
Stickler Syndrome	Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala...	ORPHA:828
Seckel Syndrome	Cachexia	ORPHA:808
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Superficial dermal perivascular inflammatory infiltrate, Eczema,...	ORPHA:83617
Cockayne Syndrome	Cachexia, Feeding difficulties in infancy, Splenomegaly, Keratoconjunctivitis sicca, Gastroesopha...	ORPHA:191
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Malnutri...	ORPHA:75565
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Feeding difficulties, Weight loss, Vomiting, Failure to thrive	ORPHA:90794
Marfan Syndrome	Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build	ORPHA:558
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia	ORPHA:740
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Pmm2-Cdg	Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis	ORPHA:79318
Goodpasture Syndrome	Glomerulonephritis, Anemia, Weight loss	OMIM:233450
Viss Syndrome	Chronic gastritis, Eczema, Increased circulating IgE level, Atopic dermatitis, Increased circulat...	OMIM:619472
Proteus Syndrome	Splenomegaly, Thymus hyperplasia, Cachexia	ORPHA:744
Norrie Disease	Failure to thrive, Cachexia	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	Nod2^em1(IMPC)Mbp	HOM		Early adult
Testis - MPATH pathological process term atrophy	Nod2^em1(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.

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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
Nod2^{tm47893(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nod2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Nod2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nod2 MGI:2429397

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Histopathology

Human diseases caused by Nod2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data