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Gene: B3gnt6 MGI:3039603

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Synonyms:
Core-3,  Core3

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 B3gnt6 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.

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

The table below shows human diseases predicted to be associated to B3gnt6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... OMIM:619281
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Abdomi... ORPHA:2070
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Rectal p... ORPHA:157794
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis,... OMIM:619164
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Abdominal pain, Pneumonia,... ORPHA:486
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
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
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Cachexia, Abdominal pain, High... ORPHA:79076
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... OMIM:300635
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hema... OMIM:617718
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... OMIM:608971
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... OMIM:617638
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... ORPHA:2688
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Follicular thy... ORPHA:97282
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Dilated cardiomyopathy, Con... OMIM:615895
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody le... ORPHA:33355
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged pro... OMIM:613812
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E... ORPHA:911
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Failure to thrive, Skin rash, Diffuse alveolar hemorrhage, Feeding... OMIM:616050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio... OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Anemia, Colitis, Hemophag... OMIM:613101
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exan... OMIM:619644
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... ORPHA:98813
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... ORPHA:331
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, L... ORPHA:3261
Immunodeficiency 48
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis, Failur... OMIM:269840
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... ORPHA:229717
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematoc... OMIM:615846
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, Cachexia, ... ORPHA:2930
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Petechiae, Maculopapular exanthema, Skin rash,... ORPHA:540
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Myelodysplasia, Abdominal pain, Leukoc... ORPHA:98849
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... OMIM:121300
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ... ORPHA:99867
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... ORPHA:99147
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic Leukemia, Chronic diarrhea, ... OMIM:619824
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcino... OMIM:158350
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Congestive heart failure, Ga... ORPHA:67
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Common Variable, 2
Splenomegaly, Diarrhea, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivitis, ... OMIM:240500
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Subarachnoid hemor... OMIM:243700
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d... OMIM:618183
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V... ORPHA:810
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Lymphoproliferative disord... ORPHA:276
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia OMIM:606764
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... OMIM:614172
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectas... OMIM:242860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Diar... ORPHA:277
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Skin rash, Abnormality o... ORPHA:33276
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Gastrointestinal dysmotility, Vomiting, Neutro... ORPHA:90051
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Inflammatory abnormality of the skin, Mala... ORPHA:398063
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Cholelithiasis, Giant cell hepatitis ORPHA:79095
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pne... ORPHA:169160
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... ORPHA:1572
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... OMIM:615607
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Lynch Syndrome
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... ORPHA:144
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, E... ORPHA:79456
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Pulmonary embolism, Diarrhea, Decreased ci... OMIM:226300
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Thrombocytopenia, Weight loss... ORPHA:69077
Monosomy 13Q34
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Visceral angiomatosis, Cavernous hemangiom... ORPHA:1059
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
20Q13.33 Microdeletion Syndrome
Hematochezia, Small for gestational age, Failure to thrive in infancy ORPHA:261311
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... OMIM:615285
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Failure to thrive ORPHA:79301
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79405
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Cachexia, Abd... ORPHA:83469
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ... OMIM:616740
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... OMIM:607594
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Abdo... ORPHA:90362
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... ORPHA:158061
Cholesteryl Ester Storage Disease
Nausea and vomiting, Splenomegaly, Diarrhea, Esophageal varix, Hepatic failure ORPHA:75234
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic l... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal abscess, C... OMIM:612541
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm ... ORPHA:2221
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... ORPHA:100924
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Purpura, Epistaxis, Anorexia, Malabsorption, Abno... ORPHA:33226
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79406
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... OMIM:619575
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Gingival fibromatosis OMIM:228600
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lympho... OMIM:212750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Abscess, Eczema, Perianal abscess, Splenomega... OMIM:618935
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly,... OMIM:618495
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... ORPHA:2137
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... OMIM:618523
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Malabsorption ORPHA:83620
Brunner Syndrome
Diarrhea OMIM:300615
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Small for gestational age, Increas... ORPHA:84064
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79411
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... ORPHA:79319
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ... ORPHA:2591
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... ORPHA:424019
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... ORPHA:99827
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Weight loss, Neoplasm of ... ORPHA:1332
Maffucci Syndrome
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... ORPHA:163634
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97278
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Intestinal lymphedema,... ORPHA:90363
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... ORPHA:340
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97283
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Diarrhea, ... ORPHA:169105
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... OMIM:231200
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr... ORPHA:276152
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Recur... ORPHA:79124
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, B-cell lymphoma, Autoimmune thrombocytopenia, Chronic diarrh... OMIM:102700
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Recur... OMIM:617475
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Splenomegaly, Chronic diarrhea, Decreased specific anti-polysacc... OMIM:614576
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
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
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, ... ORPHA:99745
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ... ORPHA:324964
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... ORPHA:343
Sapho Syndrome
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Malabsorption, Abd... ORPHA:793
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepatitis, Lymphoma,... OMIM:308240
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Constipat... ORPHA:97280
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... ORPHA:98870
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... ORPHA:85450
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... ORPHA:449285
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Multiple myeloma,... ORPHA:188
Cholesteryl Ester Storage Disease
Acute hepatic failure, Failure to thrive, Bone-marrow foam cells, Portal hypertension, Hypersplen... OMIM:278000
Immunodeficiency 11A
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... OMIM:615206
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Abdominal pain, Increased circulating IgA ... OMIM:617099
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Diarrhea,... OMIM:260920
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abdominal... ORPHA:480520
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Failure to thrive OMIM:601847
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Abdominal distention, Thrombocytopenia, Protein-losing enteropathy, Vom... OMIM:608104
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:143
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomega... ORPHA:3386
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Hemangioma, Volvulus, Intussuscepti... OMIM:112200
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Graft Versus Host Disease
Tachycardia, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Abdominal pain, Inflammator... ORPHA:39812
Cog7-Cdg
Small for gestational age, Diarrhea, Hepatosplenomegaly, Feeding difficulties, Failure to thrive ORPHA:79333
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption, Failure to thrive OMIM:211600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Increased circ... OMIM:603909
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... ORPHA:2796
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Squamous cell carcinoma, ... OMIM:226600
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom... ORPHA:79409
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Splenomegaly, Diarrhea, Acholic stools, Steatorrhea, Fat... OMIM:607765
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit... ORPHA:927
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Autoimmune hemolytic anemia, Glioma, Dysgammaglobulin... OMIM:251260
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomi... OMIM:602579
Immunodeficiency 22
Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Capill... OMIM:615758
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Chylomicron Retention Disease
Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure... ORPHA:71
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... ORPHA:542323
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Neoplasm of th... ORPHA:171
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:99880
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr... ORPHA:91139
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Hypertension, Neuroblastoma, Failure... OMIM:256700
Carcinoid Syndrome
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... ORPHA:100093
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Abdominal pain, Pulmonar... ORPHA:729
Boutonneuse Fever
Petechiae, Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Vasculitis, Increased ci... ORPHA:83313
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Anorexia, Abdominal pain, Malabsorption, Spl... ORPHA:3452
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption... ORPHA:83471
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Decreased proportion of CD4-positive T c... OMIM:619573
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Splenomegaly, Diarrhea, Steatorrhea, Hepatic failure OMIM:235555
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Orthostatic hypote... ORPHA:199299
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... OMIM:614162
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Omenn Syndrome
Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphom... ORPHA:39041
Rift Valley Fever
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Uveiti... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Decreased body weight, Na... OMIM:607906
Mirage Syndrome
Petechiae, Myelodysplasia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Thrombocytopen... OMIM:617053
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel... ORPHA:2908
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... OMIM:115310
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... ORPHA:54057
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... ORPHA:1414
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma OMIM:615225
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... ORPHA:732
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ... OMIM:616069
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Immunodeficiency 7
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia,... OMIM:615387
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Abdominal pain, Thrombocytopenia, Diarrh... ORPHA:91547
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia ORPHA:858
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Acute Lung Injury
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... ORPHA:178320
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric... ORPHA:89842
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... ORPHA:79327
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Attrv30M Amyloidosis
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Diarrhea, Paroxysmal at... ORPHA:49827
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, S... ORPHA:32960
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... ORPHA:100085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... ORPHA:79259
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... ORPHA:90068
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Chronic oral candidiasis, Dysgammaglobulinemia, Increased ci... OMIM:308230
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Leukocytosis, Bloo... ORPHA:391673
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Splenomegaly, Paralytic il... OMIM:276700
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Cholestasis, Progressive Familial Intrahepatic, 3
Splenomegaly, Diarrhea, Bile duct proliferation, Malabsorption OMIM:602347
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... ORPHA:774
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Thrombocytopenia, Diarrhea,... ORPHA:79325
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Encopresis, Diarrhea, O... ORPHA:589821
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Squamous cell... OMIM:601675
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Chronic hepatitis due to cryptosp... OMIM:615207
Yao Syndrome
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... ORPHA:221
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi... ORPHA:727
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Squamous cell carcinoma, Granul... ORPHA:542592
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Raynaud phenomeno... ORPHA:93552
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurre... OMIM:613489
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Thrombocytope... ORPHA:64743
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... OMIM:176000
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea, Reticulocytop... OMIM:275350
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... ORPHA:79430
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea ORPHA:85445
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Myelodysplasia, Cryptorchidism, Diarrhea, Functional ... ORPHA:221008
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Abdominal pain, Hypovolemia, Hepatosple... ORPHA:275761
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancyto... OMIM:305000
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... ORPHA:90308
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Prolonged prothrombin time, High palate, H... OMIM:617941
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Hepatosplenomegaly, Feeding difficu... ORPHA:263501
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous melanoma,... ORPHA:79410
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi... ORPHA:36426
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Myelodysplasia, Cryptorchidism, Diarrhea, Lymphoma, F... ORPHA:221016
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... OMIM:242700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Weight loss, Abnormal testi... ORPHA:54251
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Diarrhea, Neutrop... OMIM:617827
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Lymphoma, U... ORPHA:36412
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Leukoc... OMIM:249100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... OMIM:201475
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chronic diarrhea... OMIM:602450
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Failure to thrive, Sinusitis, Decreased circulating IgG... OMIM:208900
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... OMIM:613989
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Lujo Hemorrhagic Fever
Odynophagia, Fulminant hepatitis, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exanthe... ORPHA:319213
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Infl... OMIM:232240
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, ... ORPHA:36397
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Ecchymosis, Infe... ORPHA:36234
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea ORPHA:352447
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Refractory sideroblasti... OMIM:557000
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive, Anemia ORPHA:1842
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... ORPHA:85443
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Xeroderma Pigmentosum Variant
Keratitis, Telangiectasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties, Bloody diarrhea OMIM:615119
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Rothmund-Thomson Syndrome
Aplastic anemia, Small for gestational age, Myelodysplasia, Telangiectasia of the skin, Skin rash... ORPHA:2909
Lassa Fever
Nausea and vomiting, Abnormal bleeding, Shock, Abdominal pain, Diarrhea, Increased circulating Ig... ORPHA:99824
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyos... ORPHA:647
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations OMIM:133020
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Plague
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... ORPHA:707
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Skin rash, Fluctu... OMIM:610377
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Uri... ORPHA:556
Methanol Poisoning
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Diarrh... ORPHA:31825
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepatocellular adeno... ORPHA:264580
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Pheochromocytoma, Ganglioneuromatosis, Cervical neoplasm, Neuroma, Neo... ORPHA:653
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:228371
Yellow Fever
Increased circulating interleukin 6 concentration, Vomiting, Internal hemorrhage, Nausea, Abnorma... ORPHA:99829
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... ORPHA:454831
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash, Arrhythmia ORPHA:29822
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Hypotens... ORPHA:79455
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Squamous cell carcinoma, Syncope, Dysphagia, Failure to thrive ORPHA:60032
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Failure to thrive, Pericarditis, Feeding difficulties in infancy, Diarrhea, Card... OMIM:212065
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution,... ORPHA:221139
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Atrial fibrillation, Keratitis, Splenomegaly, Diarrhea, Conges... ORPHA:525731
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:145981
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure, ... OMIM:606812
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss... ORPHA:29207
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Werner Syndrome
Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neopl... ORPHA:902
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Prolonged bleeding time, Pericarditis, Gastritis, ... ORPHA:809
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Diarrhea, Thrombocytopenia, Hypo... OMIM:603554
Wild Type Attr Amyloidosis
Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, Gastrointestin... ORPHA:330001
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Galactosemia I
Hemolytic anemia, Diarrhea, Vomiting, Decreased liver function, Failure to thrive OMIM:230400
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Reduced systolic function, Microcytic anemia, Dilated cardiomyopath... OMIM:618805
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Myocarditis,... ORPHA:549
Rat-Bite Fever
Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarr... ORPHA:31205
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,... ORPHA:514
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight, F... ORPHA:96180
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... OMIM:116920
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Addison Disease
Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Primary testicular failure, Orthostat... ORPHA:85138
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Facial telangiectasia, Ovarian neoplasm ORPHA:50944
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Increased mean co... ORPHA:90041
Classic Galactosemia
Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepa... ORPHA:79239
Glutaric Aciduria Iii
Diarrhea, Hypertension, Vomiting, Failure to thrive, Goiter OMIM:231690
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Hypertension, Inflammation of ... OMIM:232220
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... ORPHA:436252
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Anorexia, Poor appetite, Elevated circulating growth hormone ... ORPHA:97287
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Avian Influenza
Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Hepatitis, Leukopenia, Vomiting, C... ORPHA:454836
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
B4Galt1-Cdg
Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly,... ORPHA:79332
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Diarrhea, Cardiomyopathy, Mitral regurgitation, Vomiting, Hypertrophic ... OMIM:212140
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Failure to thrive in infancy, Portal hypertension, Feeding difficulties in infancy,... OMIM:613385
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Cleft palate, Carcinoma, Teratoma, Lipoma, Hepatoblastoma, Me... OMIM:304050
Dpm1-Cdg
High, narrow palate, Diarrhea, Hepatosplenomegaly, Failure to thrive, Gastrostomy tube feeding in... ORPHA:79322
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea OMIM:261750
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Splenomegaly, Vasculitis, Arthritis... ORPHA:91138
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive OMIM:264350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Congestive heart failure, Recurrent pneumo... OMIM:309900
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weigh... ORPHA:361
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prosta... ORPHA:900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia ORPHA:42
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Melas
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduc... ORPHA:550
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Leukopenia, Pulmonary arteria... ORPHA:974
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Diarrhea, Splenomegaly ORPHA:56425
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bruising susceptibility... ORPHA:101096
Dubowitz Syndrome
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... OMIM:223370
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:600740
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Bronchiectasis, Recurrent pneumonia, Hepatosple... OMIM:219700
Lysinuric Protein Intolerance
Protein avoidance, Thrombocytopenia, Diarrhea, Malnutrition, Splenomegaly, Pancreatitis, Leukopen... OMIM:222700
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia OMIM:252930
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Petechiae ORPHA:51188
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis... ORPHA:20
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Polycystic ovaries, Vomiti... ORPHA:79240
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Vomiting, Conjunctivit... ORPHA:533
Beta-Ketothiolase Deficiency
Anorexia, Leukocytosis, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension, Thrombocytosis ORPHA:134
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Ga... OMIM:620233
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Small for gestational age, Severe periodontitis, Protruding tongue, Microcytic anem... ORPHA:99843
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uv... OMIM:181000
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive OMIM:177735
Behçet Disease
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... ORPHA:117
Lysinuric Protein Intolerance
Abnormal bleeding, Failure to thrive, Decreased response to growth hormone stimulation test, Glom... ORPHA:470
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... ORPHA:79276
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... ORPHA:97685
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia, ... OMIM:620072
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Decreased testicular size, Carcinoma OMIM:610644
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Leukocyto... ORPHA:2331
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Aplasia of the... OMIM:612132
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Diarrhea, Leukocytosis, Feedi... OMIM:618278
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Epidermodysplasia Verruciformis
Recurrent skin infections, Telangiectasia of the skin, Seborrheic dermatitis, Pustule, Squamous c... ORPHA:302
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Co... OMIM:223900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... ORPHA:363705
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Petechiae, Feeding difficulties OMIM:602473
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia, Chronic diarrhea, Nausea OMIM:615084
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Colchicine Poisoning
Congestive heart failure, Leukocytosis, Diarrhea, Hypovolemia, Myocarditis, Vomiting, Hypotension... ORPHA:31824
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... ORPHA:2131
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy OMIM:252920
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Failure to thrive, Small for gestational age, Increased me... OMIM:222470
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Vomiting ORPHA:263455
Steinert Myotonic Dystrophy
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... ORPHA:273
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy OMIM:252900
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Bronchiectasis, Mal... OMIM:210900
Cholestasis, Progressive Familial Intrahepatic, 9
Splenomegaly, Diarrhea, Portal hypertension OMIM:619849
Cholera
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Abdominal cramps, Vomitin... ORPHA:173
Gitelman Syndrome
Iron deficiency anemia, Tubulointerstitial nephritis, Prominent U wave, Abnormal T-wave, Hashimot... ORPHA:358
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Splenomegaly, Diarrhea, Failure to thrive, Decreased testicular size OMIM:201100
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re... ORPHA:420741
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis ORPHA:405
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis OMIM:608654
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting OMIM:618321
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... ORPHA:678
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Narrow palate, High palate, Vo... OMIM:608836
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... ORPHA:99921
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Protein-l... OMIM:619991
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... OMIM:253260
Citrullinemia Type Ii
Decreased body mass index, Diarrhea, Vomiting, Hepatocellular carcinoma, Pancreatitis ORPHA:247585
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Raynaud phenomenon, Punctat... ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... OMIM:235400
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Arrhythmia, Feeding difficulties OMIM:255120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar... ORPHA:247598
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Feeding difficulties in infancy, Diarrhea, Dilated ... ORPHA:71212
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Chronic diarrhea, Dec... OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfu... OMIM:619484
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitat... OMIM:252940
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Cryptorchidism, Overweight, Chronic diarrhea, Chronic constipati... ORPHA:500055
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Panhypopituitarism, Decreased testicular size, Chronic decreased circulating IgG1 OMIM:300953
Acute Adrenal Insufficiency
Nausea and vomiting, Normocytic anemia, Orthostatic hypotension, Anorexia, Abdominal pain, Myocar... ORPHA:95409
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... OMIM:610768
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colit... OMIM:617137
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Incr... ORPHA:79139
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Chronic diarrhea, Dilated cardiomyopathy, Hepatitis, Cleft pal... OMIM:614921
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Syncope, Vomiting, Orthostatic syncope, Rhinitis... ORPHA:230
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Chronic diarrhea, P... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... OMIM:105210
Trichohepatoneurodevelopmental Syndrome
Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High... OMIM:618268
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... ORPHA:427
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Vasculitis, Skin rash OMIM:601979
Xeroderma Pigmentosum, Variant Type
Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Conjunctiviti... OMIM:278750
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Chronic dia... OMIM:619005
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Dilated cardiomyopathy... ORPHA:79408
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Uveitis, Hypertension, Conjunctivitis, Failure to thrive, Anemia ORPHA:90321
Sandhoff Disease
Orthostatic hypotension, Chronic diarrhea, Hepatosplenomegaly, Episodic abdominal pain, Macroglossia OMIM:268800
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Dilated cardiomyopathy,... ORPHA:79404
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Erythema nodosum, Lip telangiectas... OMIM:613471
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... ORPHA:699
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arrhythmia, Microcolon ORPHA:163746
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... ORPHA:565
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... ORPHA:761
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:99228
Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:881
Retinoblastoma
Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ... OMIM:180200
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Pancreatic calcification ORPHA:677
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis OMIM:217090
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc... ORPHA:79277
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... OMIM:256810
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis OMIM:213700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip... ORPHA:538
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction, Anemia OMIM:208060
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal re... ORPHA:567
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani... ORPHA:90062
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Diarrhea, Tachycardia, Vomiting ORPHA:348
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Pustule, Xerostomi... ORPHA:2907
Farber Disease
Failure to thrive, Thrombocytopenia, Chronic diarrhea, Hepatosplenomegaly, Feeding difficulties, ... ORPHA:333
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Diarrhea, Hypoplasia of the ovary, Gastroesophageal ref... ORPHA:79328
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Ne... ORPHA:217253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Wolfram Syndrome 2
Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Occipital Horn Syndrome
Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Chronic diarrhea, Bladder carcinom... OMIM:304150
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive ORPHA:47159
Mucopolysaccharidosis Type 3
Malabsorption, Splenomegaly, Atrioventricular block, Macroglossia, Reduced left ventricular eject... ORPHA:581
Ogden Syndrome
Ventricular tachycardia, Iron deficiency anemia, High palate, Vomiting, Supraventricular tachycar... OMIM:300855
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Hurler Syndrome
Angina pectoris, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Cardiomyopat... ORPHA:93473
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, First degree atrioventric... ORPHA:509
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p... OMIM:619351
Williams Syndrome
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car... ORPHA:904
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... OMIM:619472
Glycogen Storage Disease Ia
Abnormal bleeding, Gout, Hypertension, Protuberant abdomen, Hepatocellular carcinoma, Intermitten... OMIM:232200
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Chikungunya
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema no... ORPHA:324625
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Exocrine pancreatic insuffi... ORPHA:2255
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:614441
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Abdominal p... ORPHA:466677
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Mowat-Wilson Syndrome
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... ORPHA:2152
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Chron... OMIM:615873
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... ORPHA:797
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard p... OMIM:617140
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Aspartylglucosaminuria
Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macroorc... OMIM:208400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... OMIM:606721
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Splenomegaly, Diarrhea, Myocarditis, Congestive heart fail... ORPHA:3385
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Periodontitis ORPHA:722
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Diarrhea, Low-to-normal blood pressure, Vomiting,... OMIM:601678
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea OMIM:229600
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:167100
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Cleft pa... OMIM:135900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... OMIM:225400
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Small for gestational age, Feeding diff... ORPHA:508488
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Transient ischemic attack, Feedi... ORPHA:500150
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, H... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, H... ORPHA:217093
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... OMIM:241200
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Mucopolysaccharidosis Type 2
Splenomegaly, Chronic diarrhea, Macroglossia, Hypertension, Cardiomyopathy, Hip osteoarthritis, A... ORPHA:580
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea ORPHA:909

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 B3gnt6

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 B3gnt6.

No publications found that use IMPC mice or data for B3gnt6.

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
B3gnt6tm114286(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
B3gnt6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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