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Gene: Nlrp6 MGI:2141990

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

NLR family, pyrin domain containing 6

Synonyms:

Nalp6

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nlrp6 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 Nlrp6 (0 diseases)
Human diseases predicted to be associated with Nlrp6 (1009 diseases)

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

The table below shows human diseases predicted to be associated to Nlrp6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio...	ORPHA:209964
Immunodeficiency 25	Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Immunodeficiency 24	Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio, Severe varicella zoster infecti...	OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro...	OMIM:615767
Angioedema, Hereditary, 3	Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting	OMIM:610618
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm...	ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection...	OMIM:618982
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent...	ORPHA:103910
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul...	OMIM:617638
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Edema, Abdominal pain, Abnorma...	ORPHA:263665
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,...	OMIM:618394
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai...	ORPHA:2070
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ...	OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacteria...	OMIM:612692
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr...	OMIM:605258
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte...	OMIM:300400
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 37	Decreased circulating antibody level, Recurrent infections, Colitis, Decreased proportion of cent...	OMIM:616098
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,...	OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio...	OMIM:613502
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarr...	OMIM:269840
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med...	ORPHA:169160
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Diarrhea 8, Secretory Sodium, Congenital	Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El...	OMIM:616868
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chronic mucocutane...	OMIM:608971
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro...	OMIM:209920
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu...	OMIM:601859
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,...	OMIM:106100
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Lymphopenia, Eczema, Chronic diarrhea, Oligoar...	OMIM:619510
Ficolin 3 Deficiency	Necrotizing enterocolitis, Verrucae	OMIM:613860
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal...	ORPHA:100050
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Immunodeficiency, Common Variable, 2	Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Br...	OMIM:240500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Ch...	OMIM:619652
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu...	OMIM:614102
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,...	OMIM:617765
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections,...	OMIM:615592
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res...	OMIM:618944
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis...	OMIM:601457
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Lymph...	OMIM:209950
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100082
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections...	OMIM:300636
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Abnorma...	OMIM:212050
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno...	ORPHA:329971
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect...	OMIM:608106
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
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the...	OMIM:137100
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ...	OMIM:616050
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Splenome...	OMIM:260920
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In...	OMIM:301000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Angiostrongyliasis	Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Unusual CNS ...	ORPHA:74
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation o...	OMIM:614700
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Int...	ORPHA:90363
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio...	OMIM:614069
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C...	ORPHA:911
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med...	ORPHA:572
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections, Anemia, Leuko...	OMIM:615285
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti...	ORPHA:99818
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,...	ORPHA:33355
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,...	OMIM:616740
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio...	OMIM:214950
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Immunodeficiency 44	Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le...	OMIM:616636
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro...	ORPHA:913
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Activated Pi3K-Delta Syndrome	Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, BCGosis, Dia...	OMIM:618963
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti...	OMIM:615934
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent viral infections, Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decrea...	ORPHA:35078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast...	OMIM:301074
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p...	ORPHA:343
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm	ORPHA:46488
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Immunodeficiency 40	Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Eosinop...	OMIM:616433
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm...	OMIM:614470
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia...	OMIM:606367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr...	OMIM:617718
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, S...	OMIM:613812
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis, Recurre...	OMIM:616395
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 19	Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab...	OMIM:615617
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf...	ORPHA:73263
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections	OMIM:146830
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis...	ORPHA:906
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ...	OMIM:615758
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden...	ORPHA:83313
Vipoma	Neoplasm of the pancreas, Nausea and vomiting, Follicular thyroid carcinoma, Anorexia, Malabsorpt...	ORPHA:97282
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope...	OMIM:601495
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Chronic diarrhea, Dilated cardio...	OMIM:615895
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Sepsis, Abnormal blood ion concentration, Tubulointerstitial nephri...	ORPHA:37042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Chr...	OMIM:102700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Dystonia 31	Abnormal posturing, Dysphagia	OMIM:619565
Primary Intestinal Lymphangiectasia	Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Cryptococcal menin...	ORPHA:90362
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Rabies	Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia	ORPHA:770
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,...	OMIM:229050
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio...	ORPHA:48435
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec...	OMIM:618131
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ...	ORPHA:331
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enter...	OMIM:615863
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep...	ORPHA:251992
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ...	OMIM:614602
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Hereditary Folate Malabsorption	Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Pancyt...	ORPHA:90045
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Lymphadeni...	OMIM:618935
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana...	OMIM:618183
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l...	OMIM:226300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent p...	OMIM:619752
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Sever...	ORPHA:2686
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100080
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Feeding difficulties, Hypocystin...	OMIM:617744
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr...	OMIM:602450
Obesity Due To Sim1 Deficiency	Cognitive impairment, Hypotension, Attention deficit hyperactivity disorder, Memory impairment, P...	ORPHA:369873
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Celiac disease, Abdominal distent...	ORPHA:186
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Anterior uveitis, Colitis, Ileal ulcer	OMIM:616744
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ...	OMIM:619774
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy	OMIM:618973
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Chronic active hepatitis, Recurrent pneumonia...	OMIM:614379
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal ...	ORPHA:71272
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage, Hemangioma	OMIM:106070
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia...	OMIM:618986
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ...	ORPHA:79124
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding di...	OMIM:617241
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo...	OMIM:121300
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Pso...	OMIM:615577
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I...	OMIM:242860
Neuroendocrine Tumor Of Stomach	Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi...	ORPHA:100075
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Abdominal distention, Diarrhea, Vomiting	ORPHA:35122
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre...	OMIM:618261
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect...	OMIM:613960
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy...	OMIM:304790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect...	OMIM:242700
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Hematemesis, Pericardial effusion, D...	OMIM:615846
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ...	ORPHA:103907
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Immunodeficiency 32B	Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly,...	OMIM:226990
Shigellosis	Anorexia, Intestinal perforation, Sepsis, Abnormal blood ion concentration, Bloody diarrhea, Para...	ORPHA:810
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Elevated circulating C-reactive protein ...	ORPHA:449400
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility...	ORPHA:67
Perry Syndrome	Dementia, Hypotension, Depression	ORPHA:178509
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia	OMIM:606764
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Giant cell hepatitis	ORPHA:79095
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F...	ORPHA:2137
20Q13.33 Microdeletion Syndrome	Hematochezia, Small for gestational age, Failure to thrive in infancy, Oligohydramnios	ORPHA:261311
Xq28 (MECP2) duplication	Recurrent respiratory infections, Feeding difficulties in infancy, Constipation, Gastroesophageal...	DECIPHER:45
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ...	ORPHA:90038
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting	OMIM:606528
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Omenn Syndrome	Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Diar...	OMIM:603554
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting, Recu...	OMIM:616069
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,...	OMIM:615387
Monosomy 13Q34	Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis	ORPHA:96168
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Hematological neoplasm, Gastrointes...	ORPHA:99147
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia	ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption	ORPHA:79301
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonata...	OMIM:152800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,...	ORPHA:853
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ...	OMIM:246700
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac...	ORPHA:169079
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Malabsorption, Hype...	ORPHA:98850
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre...	OMIM:301078
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,...	ORPHA:90051
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Cervical lymp...	ORPHA:3392
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo...	ORPHA:391487
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest...	ORPHA:75234
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ...	ORPHA:424019
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi...	ORPHA:85446
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb...	ORPHA:47
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl...	ORPHA:544482
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir...	OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis	ORPHA:231
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin...	OMIM:620210
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, High palate, Vom...	OMIM:616809
Brunner Syndrome	Diarrhea	OMIM:300615
Familial Colorectal Cancer Type X	Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain...	ORPHA:440437
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Decreased circu...	ORPHA:2298
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode...	OMIM:614328
Immunodeficiency 31C	Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ...	OMIM:614162
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections	OMIM:618985
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Complement Component 5 Deficiency	Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Gen...	OMIM:609536
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytopenia, Lymphaden...	ORPHA:507
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleed...	ORPHA:1059
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Mala...	ORPHA:398063
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Arthriti...	ORPHA:37748
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro...	OMIM:619858
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Lynch Syndrome	Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce...	ORPHA:144
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr...	OMIM:619575
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged...	ORPHA:79078
Netherton Syndrome	Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Eczema, Allergic rh...	OMIM:256500
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Mpi-Cdg	Gastrointestinal hemorrhage, Edema, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vo...	ORPHA:79319
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase concentration, Splen...	OMIM:614576
Cog7-Cdg	Elevated circulating creatine kinase concentration, Diarrhea, Hepatosplenomegaly, Feeding difficu...	ORPHA:79333
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform...	ORPHA:221139
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi...	OMIM:301220
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid...	OMIM:131100
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia	OMIM:304700
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Neoplas...	ORPHA:543
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Edema, Skin rash, Vasculitis, Weight...	ORPHA:324964
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Prostatitis, Increased circulating I...	ORPHA:449432
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Sapho Syndrome	Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Edema, Malabsorption, Abdominal p...	ORPHA:793
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig...	ORPHA:97292
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Furrowed t...	ORPHA:2930
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Bloom Syndrome	Recurrent herpes, Poor appetite, Severe varicella zoster infection, Uveitis, Gastroesophageal ref...	ORPHA:125
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammonemia, Vomiting,...	OMIM:620137
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia	OMIM:613217
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Thymoma	Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplas...	ORPHA:99867
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis, Increased circulating IgG level, Severe infection	ORPHA:206594
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit...	ORPHA:1304
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain...	OMIM:249100
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrop...	OMIM:619644
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep...	OMIM:618999
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom...	ORPHA:652
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Pleural effusion, Gastrointestinal infarctions, Constrictive pericar...	OMIM:602248
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu...	OMIM:611762
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele...	OMIM:610377
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c...	OMIM:208900
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact...	OMIM:613496
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Increased urinary porphobili...	ORPHA:100924
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Feeding difficulties	OMIM:620270
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre...	ORPHA:54057
Adult-Onset Nemaline Myopathy	Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties, High palate, Mildly elevated crea...	ORPHA:171442
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Legionnaires Disease	Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Recurrent pharyngitis,...	ORPHA:549
Syndromic Diarrhea	Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Recurrent ...	ORPHA:84064
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi...	OMIM:212750
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection...	OMIM:619573
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp...	OMIM:619971
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating copper concentration, Splenomegaly, Ch...	OMIM:300972
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Gastroesophageal reflux, Oral leukoplakia,...	OMIM:620040
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow...	OMIM:278000
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop...	ORPHA:91547
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, L...	ORPHA:79456
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Serotonin Syndrome	Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ...	ORPHA:43116
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Lassa Fever	Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Conjuncti...	ORPHA:99824
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po...	ORPHA:542323
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei...	ORPHA:32960
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Abdomi...	ORPHA:98849
Diarrhea 13	Hypoalbuminemia, Secretory diarrhea, Vomiting	OMIM:620357
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract...	OMIM:619446
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig...	ORPHA:2643
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling...	ORPHA:98878
American Trypanosomiasis	Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomega...	ORPHA:3386
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa...	ORPHA:3077
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
Alg12-Cdg	Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Recurrent ea...	ORPHA:79324
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Disc...	ORPHA:93552
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Gastrostomy tube feeding in infancy, Hypersplenis...	OMIM:613385
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Feeding difficulties, Gastroesophageal reflux, Pulmonary arterial hypertension, Abnormal posturin...	OMIM:614857
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga...	ORPHA:85450
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Typhoid	Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Inf...	ORPHA:99745
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:617591
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Protei...	ORPHA:79327
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee...	OMIM:306900
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Leukopenia...	ORPHA:99828
Mercury Poisoning	Tachycardia, Confusion, Anorexia, Hypertension, Hypotension, Acute kidney injury	ORPHA:330021
Congenital Toxoplasmosis	Thrombocytopenia, Diarrhea, Anemia, Lymphadenopathy	ORPHA:858
Cog4-Cdg	Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, He...	ORPHA:263501
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C...	ORPHA:309031
Glycogen Storage Disease Ixb	Splenomegaly, Diarrhea, Hyperuricemia	OMIM:261750
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Anorexia, Malabsorption, Abnormality of neutrophi...	ORPHA:33226
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic ...	ORPHA:2796
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Necrotizing Enterocolitis	Neonatal sepsis, Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Leukocytosis, Bloody ...	ORPHA:391673
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Acholic stools, Stea...	OMIM:607765
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti...	ORPHA:3260
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe...	ORPHA:90068
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ...	ORPHA:169805
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Gastritis, Megaloblastic anemia, Abnormal erythrocyte morpholog...	ORPHA:2575
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac...	ORPHA:276152
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi...	OMIM:603041
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Increased hepatitis B virus...	ORPHA:90003
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric stenosis, Splen...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Diarrhea, Abdominal distention, Elevated circulating creatinine concentration, Th...	OMIM:608104
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Anorexia, Thrombocytopenia, Leukocytosis, ...	ORPHA:297
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren...	OMIM:614172
Enteric Anendocrinosis	Diarrhea, Vomiting, Malabsorption	ORPHA:83620
Hemorrhagic Fever-Renal Syndrome	Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti...	ORPHA:340
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,...	ORPHA:448237
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro...	OMIM:115310
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior...	OMIM:142680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor...	ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption	OMIM:601847
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, Ly...	ORPHA:36412
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Skin ra...	ORPHA:33276
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,...	ORPHA:99827
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Elevated circulating C-reacti...	ORPHA:829
Omenn Syndrome	Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sepsis, Thyroiditis, Lymph...	ORPHA:39041
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Recurrent infections...	ORPHA:352447
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Diarrhea, Hyperbilirubinemia, Steatorrhea, Hepatic failure	OMIM:235555
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl...	OMIM:112200
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast...	OMIM:201475
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea...	OMIM:615947
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal...	ORPHA:232
Enterokinase Deficiency	Diarrhea, Hypoproteinemia	OMIM:226200
Congenital Disorder Of Glycosylation, Type Iij	Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic f...	OMIM:613489
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy...	ORPHA:927
Rift Valley Fever	Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Severe viral infection, Hepatitis, Uveitis, M...	ORPHA:319251
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	ORPHA:2069
Galactosemia I	Hemolytic anemia, Diarrhea, Increased level of galactitol in plasma, Vomiting, Hypergalactosemia,...	OMIM:230400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper...	OMIM:235400
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain...	ORPHA:1414
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart...	ORPHA:90308
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Hyperk...	OMIM:264350
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia	OMIM:617341
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting	OMIM:248360
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Recurrent candida infections, De...	OMIM:201100
Hyaline Fibromatosis Syndrome	Diarrhea, Recurrent infections	OMIM:228600
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Dysphagia	ORPHA:309162
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas...	ORPHA:143
Congenital Dyserythropoietic Anemia Type Iii	Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding	ORPHA:98870
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Hepatic failure, Paralytic...	OMIM:276700
Fragile X-Associated Tremor/Ataxia Syndrome	Depression, Pollakisuria, Hypertension, Dementia, Compulsive behaviors, Dysphagia, Hypotension, M...	ORPHA:93256
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat ...	ORPHA:71
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Diarrhea, Leuk...	OMIM:618278
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Anal stenosis, Sinusitis, Dysgammaglobulinemia, Autoimmune he...	OMIM:251260
Caffey Disease	Feeding difficulties in infancy, Increased circulating antibody level	ORPHA:1310
Prolidase Deficiency	Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Crusting erythematous dermatitis, Re...	OMIM:170100
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Polyhydramnios, Abdominal pa...	OMIM:155310
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ...	OMIM:615710
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, L...	ORPHA:3226
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Diarrhea, Anorexia, Megaloblastic anemia	ORPHA:49827
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97278
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss...	ORPHA:29207
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Hype...	ORPHA:199299
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr...	OMIM:617827
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption	OMIM:211600
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul...	ORPHA:70591
Mogs-Cdg	Decreased circulating antibody level, Hydrocele testis, Decreased circulating total IgM, Hepatosp...	ORPHA:79330
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Pulmonary embolism, Port...	ORPHA:729
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom...	ORPHA:3452
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Common Variable Immunodeficiency	Failure to thrive in infancy, Pneumonia, Gastrointestinal stroma tumor, Vasculitis, Lymphoma, Bro...	ORPHA:1572
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton...	OMIM:158310
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Cryptorchidism, Esophageal stricture, Chronic d...	OMIM:617053
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti...	ORPHA:1333
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Neoplasm of the ...	ORPHA:171
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449427
Central Diabetes Insipidus	Hyponatremia, Diarrhea, Anorexia, Nausea and vomiting	ORPHA:178029
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysph...	OMIM:619708
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh...	ORPHA:99826
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas...	ORPHA:99880
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy, Steatorrhea, He...	OMIM:602579
Cholestasis, Progressive Familial Intrahepatic, 3	Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent...	OMIM:602347
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Methionine Malabsorption Syndrome	Diarrhea, Positive ferric chloride test	OMIM:250900
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust...	ORPHA:31205
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi...	ORPHA:727
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Un...	ORPHA:1163
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Recurrent respiratory infections, Autoimmune hemolytic anemia, Diarrhea, Coo...	ORPHA:90035
Cutaneous Mastocytoma	Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea	ORPHA:79455
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting	ORPHA:30925
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina...	ORPHA:774
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Intermittent diarrhea, Nasogastric tube ...	ORPHA:289504
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ...	ORPHA:449285
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala...	ORPHA:342
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme...	ORPHA:480520
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97283
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature...	OMIM:212138
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Mediastin...	ORPHA:228123
Cystic Echinococcosis	Abdominal symptom, Invasive parasitic infection, Unusual infection, Abnormality of the testis siz...	ORPHA:400
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Dysphagia, Abnormal posturing, Poor suck, Nasogastric tube feeding	ORPHA:225147
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel...	ORPHA:2908
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Anorexia, Abdominal pain, Abdominal distentio...	ORPHA:330015
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Thyroiditis, Chronic neutropenia, Hyperlipidemia, Diarrhea, Enterocolitis, ...	ORPHA:79259
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype...	ORPHA:79101
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Steatorrhea, Hypoalbumi...	OMIM:212065
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,...	ORPHA:51890
Smith-Kingsmore Syndrome	Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Cryptorchidism, Protuberant abdomen, Intestinal polyp, Decreased circulating...	ORPHA:457485
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal...	ORPHA:424016
Congenital Disorder Of Glycosylation, Type Ig	Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Feeding diffic...	OMIM:607143
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev...	ORPHA:634
Classic Galactosemia	Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Sepsis, Feeding difficulties, Vomiti...	ORPHA:79239
Inhalational Anthrax	Internal hemorrhage, Confusion, Hypotension	ORPHA:247257
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Immunodeficiency 9	Chronic diarrhea, BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous sto...	OMIM:612782
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin...	OMIM:175200
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Skin rash	ORPHA:29822
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti...	ORPHA:723
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Abnormal pituitary gland morphology, Thyro...	ORPHA:64744
Glycogen Storage Disease Ib	Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Recurrent bacterial infecti...	OMIM:232220
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Confusion, C...	ORPHA:31826
Plague	Glossitis, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumon...	ORPHA:707
Yellow Fever	Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul...	ORPHA:99829
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Satoyoshi Syndrome	Diarrhea, Mildly elevated creatine kinase, Malabsorption	OMIM:600705
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections, Panhypopituitarism, D...	OMIM:300953
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c...	ORPHA:65682
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti...	OMIM:617788
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno...	OMIM:612840
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo...	OMIM:177735
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric tube feeding	OMIM:607906
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Microcytic anemia	OMIM:618805
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Abdomin...	OMIM:615688
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Lujo Hemorrhagic Fever	Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Myocar...	ORPHA:319213
B4Galt1-Cdg	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom...	ORPHA:79332
Dubowitz Syndrome	Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic...	OMIM:223370
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Peptic ulcer, Pancreatitis	OMIM:145981
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Diarrhea, Bronchiectasis, Lymphadenopathy, Dissemina...	ORPHA:411703
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Abnorm...	ORPHA:677
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension, Decreased urinary potassium	OMIM:611489
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Diarrhea, Abdominal pain	OMIM:615399
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Dysphagia	OMIM:128100
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti...	ORPHA:97280
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Recurrent respiratory infections, Diarrhea, Anemia	ORPHA:1842
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Elevated circulating creatine kinase concentration, Nausea, Recurrent infections	OMIM:615084
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Chroni...	ORPHA:100079
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Feeding difficulties, Bloody diarrhea	OMIM:615119
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Bone marrow hy...	OMIM:613989
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,...	ORPHA:79240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc...	OMIM:240300
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Alg8-Cdg	Hyponatremia, Abnormality of the gastrointestinal tract, Thrombocytopenia, Diarrhea, Feeding diff...	ORPHA:79325
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Pancreatitis	ORPHA:188
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ...	ORPHA:64743
Gaucher Disease Type 1	Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytop...	ORPHA:77259
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Vomiting, Conj...	ORPHA:533
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreased circulating...	OMIM:612301
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy...	ORPHA:2552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra...	ORPHA:2241
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Anorexia, Pneumonia, Spl...	ORPHA:781
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorexia, Mediastina...	OMIM:181000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Decreased plasma to...	ORPHA:42
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Diarrhea, Malabsorption	OMIM:600955
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat...	ORPHA:449563
Carcinoid Syndrome	Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Protracted diar...	ORPHA:100093
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Lymphadenopathy, Ovarian neoplasm, Macroglossia, Glossitis	ORPHA:2221
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea	OMIM:176000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic...	ORPHA:3240
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope...	ORPHA:454831
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cryptorchidism, Exocrine pancreatic insu...	OMIM:620005
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Abnormal repetitive mannerisms, Hypotension	ORPHA:79155
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Refractory sideroblasti...	OMIM:557000
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circu...	ORPHA:2314
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat...	ORPHA:436252
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent ...	OMIM:617303
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hepatospl...	ORPHA:275761
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Glucose-Galactose Malabsorption	Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Vomiting, ...	ORPHA:35710
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Dysphagia, Nodular goiter	ORPHA:1332
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Recurrent infections, High palate, Hyperec...	OMIM:617941
Beta-Thalassemia Major	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231214
Erythermalgia, Primary	Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation	OMIM:133020
Glutaric Aciduria Iii	Diarrhea, Vomiting, Goiter	OMIM:231690
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Lysinuric Protein Intolerance	Hypolysinemia, Protein avoidance, Splenomegaly, Increased circulating ferritin concentration, Dia...	OMIM:222700
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size	OMIM:300215
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Congenital Disorder Of Glycosylation, Type Iib	Feeding difficulties in infancy, High palate, Decreased circulating IgA level, Decreased circulat...	OMIM:606056
Dermatomyositis	Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Edema, Myocardial infarction, Gastro...	ORPHA:221
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Leukocyte Adhesion Deficiency Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Neutrop...	ORPHA:99843
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest...	ORPHA:91138
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Gastritis, Skin ras...	ORPHA:809
Methanol Poisoning	Hyperlipidemia, Vomiting, Diarrhea, Abdominal pain	ORPHA:31825
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia	ORPHA:589821
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Hypotension	OMIM:145600
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections	OMIM:252920
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie...	OMIM:255120
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-...	ORPHA:85443
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Edema, Polyhydramnios, Pericardial eff...	ORPHA:363705
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, Cutaneous leiomyoma, High palate, H...	OMIM:606812
Colchicine Poisoning	Hyponatremia, Myocarditis, Diarrhea, Leukocytosis, Abnormal blood ion concentration, Hypophosphat...	ORPHA:31824
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212140
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal...	OMIM:192315
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Nausea and ...	ORPHA:36426
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Anorexia, Cryptorchidism, Diarrhea, Hyperkalemi...	ORPHA:361
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Splenomegaly...	OMIM:612132
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Dysphagia	OMIM:252930
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections	OMIM:252900
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl...	OMIM:253260
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect...	OMIM:210900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Abdominal distention, Chronic diarrhea, Leukocytosis, Bronchiectasis...	OMIM:620233
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Gitelman Syndrome	Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ...	OMIM:263800
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:187900
Liver Failure, Infantile, Transient	Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Hypoalbuminemia, Vo...	OMIM:613070
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Diarrhea, Skin rash	OMIM:601979
Kawasaki Disease	Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Recurrent pharyngitis, Cervical lym...	ORPHA:2331
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Unconjugated hyperbili...	OMIM:300908
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea, Decreased circulating chenodeoxycholic acid concentration	OMIM:619481
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Glycogen Storage Disease Ic	Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg...	OMIM:232240
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Elevated circu...	OMIM:223900
Dpm1-Cdg	Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome...	ORPHA:79322
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai...	ORPHA:79430
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Orthostatic hypotension, Hypotension	ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Renal salt wasting	OMIM:203400
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Pediatric-Onset Graves Disease	Nausea and vomiting, Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of ...	ORPHA:525731
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Irritability, Cardiomyopathy, Hypotensi...	ORPHA:159
Blue Diaper Syndrome	Diarrhea, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Beta-Ketothiolase Deficiency	Anorexia, Diarrhea, Leukocytosis, Hyperammonemia, Vomiting, Hyperuricemia, Thrombocytosis	ORPHA:134
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Okur-Chung Neurodevelopmental Syndrome	Protruding tongue, Decreased circulating antibody level, Feeding difficulties, High palate, Const...	OMIM:617062
Nipah Virus Disease	Hypotension, Anorexia	ORPHA:99825
Behçet Disease	Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd...	ORPHA:117
Familial Hypoaldosteronism	Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r...	ORPHA:427
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Abdominal pain, Pancreatic cysts, Abnormal spleen morph...	ORPHA:284
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Sepsi...	ORPHA:247353
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Japanese Encephalitis	Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ...	ORPHA:79139
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Meningococcal Meningitis	Shock, Renal insufficiency, Anorexia, Irritability, Hypotension	ORPHA:33475
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Anor...	ORPHA:100085
Cholestasis, Progressive Familial Intrahepatic, 9	Splenomegaly, Diarrhea	OMIM:619849
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy	ORPHA:100084
Adiposis Dolorosa	Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation	ORPHA:36397
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed...	OMIM:620358
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma...	ORPHA:537
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia	OMIM:616457
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Recurrent infections, Keratoconjunctivit...	OMIM:601675
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constip...	ORPHA:469
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hypertension, Agitation, Brad...	ORPHA:94093
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Peptic ulcer, Pancreatitis	OMIM:600740
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, Hyperammonemia...	ORPHA:20
Vici Syndrome	Recurrent respiratory infections, Lymphopenia, Elevated circulating creatine kinase concentration...	OMIM:242840
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Edema, Anorexia, Abdom...	ORPHA:761
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Palpebral edema, Angina...	ORPHA:93672
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Orthostatic hypotension, Hypotension	ORPHA:556030
Gaisböck Syndrome	Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele...	ORPHA:90041
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Increased circulating fr...	ORPHA:71212
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatosplenomegaly, M...	OMIM:309900
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Depression, Nephrocalcinosis, Hypotension, Emotional la...	ORPHA:428
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa...	ORPHA:100078
Cystic Fibrosis	Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent pneumonia, Ileu...	OMIM:219700
Poliomyelitis	Confusion, Anorexia, Irritability, Hypovolemic shock, Hypertension, Agitation, Hypotension, Dysph...	ORPHA:2912
Granulomatosis With Polyangiitis	Sinusitis, Periorbital edema, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Pro...	ORPHA:900
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis	OMIM:608654
Scleromyxedema	Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy...	ORPHA:167635
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Portal hypertension, Hepatic failure, Microcolon, Oligohydramnios	OMIM:619431
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Abdominal pain...	ORPHA:556
Staphylococcal Necrotizing Pneumonia	Shock, Addictive alcohol use, Confusion, Hypotension	ORPHA:36238
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Ascites, Pulmonary arterial h...	ORPHA:974
Encephalitis Lethargica	Increased circulating antibody level, Bowel incontinence, Recurrent viral infections	ORPHA:83600
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Recurrent pa...	ORPHA:676
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Cholera	Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Hypokalem...	ORPHA:173
Acute Adrenal Insufficiency	Hyponatremia, Nausea and vomiting, Normocytic anemia, Hypercalcemia, Anorexia, Abdominal pain, Di...	ORPHA:95409
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp...	OMIM:226730
Caroli Disease	Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Abdominal pain, Conjugated hyperbilirub...	ORPHA:53035
Fabry Disease	Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia	OMIM:301500
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El...	OMIM:608836
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties	OMIM:602473
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Addison Disease	Hyponatremia, Hypoparathyroidism, Nausea and vomiting, Primary testicular failure, Normocytic ane...	ORPHA:85138
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula...	ORPHA:505248
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis	OMIM:217090
Trichohepatoenteric Syndrome 1	Villous atrophy, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody lev...	OMIM:222470
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis	OMIM:614441
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropathy, Hypocalce...	OMIM:619991
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, High palate, Pheochrom...	OMIM:162300
Congenital Myopathy 20	Chronic diarrhea, High palate	OMIM:620310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Nasogastric tube fe...	ORPHA:369837
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob...	ORPHA:79276
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Increased circulating IgE level	ORPHA:3409
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Diarrhea, Vomiting, Abnormal circulating fatty-acid concentration	ORPHA:263455
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting	OMIM:560000
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo...	OMIM:214700
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated circulating creatinine concentration, Rhinitis, Vomiting, Increased blood urea...	ORPHA:230
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Sickle Cell Disease	Hemolytic anemia, Abdominal pain, Splenomegaly, Splenic infarction, Leukocytosis, Recurrent bacte...	OMIM:603903
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid...	ORPHA:699
Fructose-1,6-Bisphosphatase Deficiency	Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbi...	ORPHA:348
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, F...	ORPHA:2176
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Skin rash, Diarrhea, Vomiting, Episodic vomiting	OMIM:618321
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l...	ORPHA:247691
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Infant Botulism	Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia	ORPHA:178478
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Co...	ORPHA:37
Wild Type Attr Amyloidosis	Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence	ORPHA:330001
Analbuminemia	Hypotension	OMIM:616000
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p...	OMIM:619351
Neuroblastoma, Susceptibility To, 1	Diarrhea, Anemia, Abdominal pain	OMIM:256700
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Chronic diarrhea	OMIM:619484
Mucopolysaccharidosis, Type Iiid	Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Macroglossia, Dysphagia, Re...	OMIM:252940
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur...	ORPHA:508533
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma,...	ORPHA:538
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis	ORPHA:405
Urachal Cyst	Abscess, Elevated circulating C-reactive protein concentration, Abdominal pain, Severe infection,...	ORPHA:488
Bronchial Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite, Elevated circulating growth hormo...	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Diarrhea, Vomiting, Increased circulating free fatty acid l...	OMIM:610768
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor...	ORPHA:97685
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Trichohepatoneurodevelopmental Syndrome	Splenomegaly, Chronic diarrhea, Recurrent infections, Feeding difficulties, Macroglossia, Gastroe...	OMIM:618268
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation	OMIM:105210
Poems Syndrome	Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Polycythemia, Increased ci...	ORPHA:2905
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Abnormal ...	ORPHA:653
Farber Disease	Thrombocytopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Feeding difficu...	ORPHA:333
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Chronic diarrhea, Decre...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea	OMIM:618050
Rothmund-Thomson Syndrome	Calcinosis, Skin rash, Aplastic anemia, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, ...	ORPHA:2909
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Confusion, Oliguria, Abnormal pulse pressure, ST segmen...	ORPHA:466650
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointest...	ORPHA:221008
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Cryptorchidism, Diarrhea, Cleft palate, Functional abnormality of th...	ORPHA:221016
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiti...	ORPHA:550
Unilateral Polymicrogyria	Pseudobulbar paralysis, Epistaxis, Abnormal posturing, Nasogastric tube feeding	ORPHA:268943
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric...	ORPHA:99921
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Oligohydramnios	OMIM:263200
Cockayne Syndrome Type 1	Cryptorchidism, Diarrhea, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Anemia	ORPHA:90321
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis, Nausea	ORPHA:863
Leptospirosis	Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei...	ORPHA:509
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch...	OMIM:614921
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Microcolon, Polyhydramnios	OMIM:619362
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid...	ORPHA:235
Monosomy 18Q	Bilateral cryptorchidism, High palate, Secondary growth hormone deficiency, Decreased circulating...	ORPHA:1600
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Arrhythmia, Microcolon	ORPHA:163746
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Hemolytic an...	ORPHA:647
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di...	ORPHA:881
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib...	ORPHA:77261
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult...	ORPHA:565
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Recurrent pneu...	ORPHA:731
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Paraproteinemia, Elevated circulating ...	ORPHA:439232
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Sandhoff Disease	Macroglossia, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly	OMIM:268800
Arteriosclerosis, Severe Juvenile	Hypertension, Gastric ulcer, Myocardial infarction	OMIM:208060
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Confusion, Depression, Euphoria, Intracranial hemorrhage, Agi...	ORPHA:90062
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Diarrhea	OMIM:213700
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes...	ORPHA:500055
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Diarrhea, Crustin...	ORPHA:324625
Gaucher Disease	Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Abdominal pai...	ORPHA:355
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Congenital Enterovirus Infection	Myocarditis, Irritability, Hypotension, Cardiomyopathy	ORPHA:292
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Distal Renal Tubular Acidosis	Hemolytic anemia, Poor appetite, Diarrhea, Hypokalemia, Vomiting, Constipation	ORPHA:18
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel...	OMIM:613471
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate	ORPHA:457279
Glycogen Storage Disease Ia	Hyperlipidemia, Gout, Hyperuricemia, Protuberant abdomen, Hepatocellular carcinoma, Intermittent ...	OMIM:232200
Wolfram Syndrome 2	Abnormal bleeding, Gastric ulcer	OMIM:604928
Williams Syndrome	Myocardial infarction, Periorbital edema, Rectal prolapse, Gastroesophageal reflux, Chronic otiti...	ORPHA:904
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Thyroid hyperplasia	ORPHA:99819
Pituitary Apoplexy	Hypertension, Confusion, Hypotension	ORPHA:95613
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Osteomyelitis...	OMIM:256810
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Diarrhea, Thyroid hyperplasia	ORPHA:424
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Diarrhea,...	OMIM:601678
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:567
Gitelman Syndrome	Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Hypermagnesemia, Gout, T...	ORPHA:358
Ogden Syndrome	Tube feeding, Eczema, Cryptorchidism, Diarrhea, Narrow palate, Recurrent infections, Hydrocele te...	OMIM:300855
Pde4D Haploinsufficiency Syndrome	Hypospadias, Hypotension	ORPHA:439822
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Malabsorption, Splenomegaly, Recurrent tonsillitis, Macroglos...	ORPHA:581
Hurler Syndrome	Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglos...	ORPHA:93473
Spondyloocular Syndrome	Decreased body weight, Duodenal ulcer, Lymphedema	OMIM:605822
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis	ORPHA:722
Alexander Disease	Sudden cardiac death, Depression, Self-injurious behavior, Hypertension, Hypotension, Dysphagia, ...	ORPHA:58
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Anemia	OMIM:620072
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic constipation, High ...	OMIM:619005
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Hypochloremia, Hypokalemia, Increas...	OMIM:241200
Alg9-Cdg	Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipples,...	ORPHA:79328
Hennekam-Beemer Syndrome	Irritability, Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea, Acne, Seborrheic dermatitis	OMIM:167100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hypospadias, Penoscrotal hypospadias, Renal salt wasting	ORPHA:90791
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne...	ORPHA:99889
Congenital Isolated Acth Deficiency	Hypotension	ORPHA:199296
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Cholelithia...	ORPHA:273
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea	OMIM:229600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353277
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Abdominal pain, Myocarditis, D...	ORPHA:466677
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent pneumonia, Chronic ...	ORPHA:158668
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Abnormal urine potassium concentration, Hypovolemia, Hypernatriuria, Midshaft...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Abnormal urine potassium concentration, Hypovolemia, Hypernatriuria, Midshaft...	ORPHA:289548
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Proximal Renal Tubular Acidosis	Malabsorption, Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting	ORPHA:47159
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt...	OMIM:615873
Aspartylglucosaminuria	Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropen...	OMIM:208400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru...	OMIM:225400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility,...	ORPHA:500150
African Trypanosomiasis	Pericarditis, Keratitis, Splenomegaly, Diarrhea, Myocarditis, Hepatosplenomegaly, Abnormal prolac...	ORPHA:3385
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, High, narrow palate, Cryptorchidism, Increased circulating IgE level, Splen...	ORPHA:373
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi...	OMIM:304150
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Diarrhea, Feeding difficulties, Vomiting, Recurrent pancreatitis, Dysphagia...	OMIM:606721
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul...	OMIM:135900
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast...	ORPHA:508488
Mucopolysaccharidosis Type 2, Severe Form	Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia...	ORPHA:217093
Zttk Syndrome	Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe...	OMIM:617140
Mucopolysaccharidosis Type 2	Recurrent ear infections, Splenomegaly, Recurrent upper respiratory tract infections, Chronic dia...	ORPHA:580
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Exocrine pancreatic insufficiency, Feeding difficulties, Aplasia/Hypoplas...	ORPHA:2255
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Renal salt wasting, Long penis, Hypovolemia, Elevated urinary epinephrine level, Hypernatr...	ORPHA:90794
Prolactinoma	Hypotension	ORPHA:2965
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V...	ORPHA:91347
Nmda Receptor Encephalitis	Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma	ORPHA:217253
Cerebrotendinous Xanthomatosis	Cholelithiasis, Chronic diarrhea	ORPHA:909
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension	ORPHA:293978
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nlrp6

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 Nlrp6.

No publications found that use IMPC mice or data for Nlrp6.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nlrp6^tm1(KOMP)Mbp	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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