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Gene: Muc2 MGI:1339364

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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:
mucin 2
Synonyms:
2010015E03Rik

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 Muc2 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 Muc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chr... ORPHA:209964
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
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
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... ORPHA:2070
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... OMIM:300635
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... OMIM:619281
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... ORPHA:2869
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Refractory anemia, Cachexia, Abdominal pain, High... ORPHA:79076
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Decreased circu... OMIM:613101
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... ORPHA:90038
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Immunodeficiency 70
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Abnormality of mitochondrial meta... ORPHA:33355
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
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
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... OMIM:617638
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased serum ir... ORPHA:98870
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... ORPHA:331
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema... OMIM:617718
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption ORPHA:79301
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... OMIM:608971
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... ORPHA:340
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... ORPHA:98813
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Hyperlipidemia, Vomiting, Hypoalbuminemia, Protein-lo... OMIM:615863
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... ORPHA:75234
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
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
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... OMIM:614602
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abdominal... ORPHA:480520
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Diarrhea 9
Diarrhea OMIM:618168
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleed... ORPHA:1059
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Congestive heart failure, Di... ORPHA:67
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... ORPHA:99818
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... ORPHA:37042
Rift Valley Fever
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Uveiti... ORPHA:319251
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Failure to thrive, Elevated... OMIM:276700
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure OMIM:214950
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:90051
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Dilated card... OMIM:615895
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Brunner Syndrome
Diarrhea OMIM:300615
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... ORPHA:79319
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, Stea... OMIM:613812
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Esophageal stenosis, Decreased circulating antibody level OMIM:615190
Coproporphyria, Hereditary
Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:coproporphyrin ... OMIM:121300
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglycer... OMIM:278000
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... ORPHA:144
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Protein-losing en... OMIM:619063
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo... ORPHA:71
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia OMIM:617341
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Immunodeficiency 48
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis, Failur... OMIM:269840
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... ORPHA:48104
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... ORPHA:99745
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... ORPHA:169805
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea, Decreased ci... OMIM:226300
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... ORPHA:343
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... ORPHA:2137
Intussusception
Intussusception OMIM:147710
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Failure to thrive, Hypertriglyceridemia, Vomiting OMIM:614480
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Petechiae, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B... OMIM:620133
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Splenomegaly, ... ORPHA:2930
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:614576
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Bronchiectasis, Recurrent pneumonia, Hepatosple... OMIM:219700
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Immunodeficiency 69
Pancytopenia, Skin rash, Increased circulating ferritin concentration, Diarrhea, Splenomegaly, Le... OMIM:618963
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Weigh... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy OMIM:619175
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Abdo... ORPHA:398063
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... OMIM:619858
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis... OMIM:615846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Decrea... OMIM:615947
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... ORPHA:774
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine concentration, Pa... OMIM:608104
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diarrhea, Recurr... ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir... OMIM:620282
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... OMIM:618183
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate OMIM:618010
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Giant cell hepatitis ORPHA:79095
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losing enteropathy, Inte... OMIM:235510
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Multiple l... ORPHA:1414
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... ORPHA:732
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... ORPHA:79259
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Enterokinase Deficiency
Diarrhea OMIM:226200
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestatio... ORPHA:84064
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Cryptorchidism, Obesity, Cleft palat... OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, ... OMIM:603552
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Dysphagia ORPHA:99013
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... OMIM:615285
Erythroderma Desquamativum
Diarrhea ORPHA:314
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hypovolem... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Abdominal pain, Leukocytosis, Increase... ORPHA:98849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun... ORPHA:91138
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97278
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... ORPHA:64743
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... ORPHA:3452
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, ... ORPHA:90362
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero... OMIM:610947
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... OMIM:613177
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... ORPHA:79456
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Cystic Fibrosis
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... ORPHA:586
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ... OMIM:615592
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:187900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudden cardiac dea... OMIM:201475
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Malabsorption ORPHA:83620
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... ORPHA:33226
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... OMIM:616740
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Episodic abdom... ORPHA:97282
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Pulmonary embolism, Abdo... ORPHA:729
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Cold Agglutinin Disease
Nausea and vomiting, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia OMIM:606764
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting ORPHA:677
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... ORPHA:100924
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Decreased activity of mitochondrial complex IV, Feeding difficulties, Weight ... OMIM:612075
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o... OMIM:607594
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm... ORPHA:79124
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... ORPHA:449285
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo... ORPHA:486
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... OMIM:212750
Junctional Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation ORPHA:79405
Smith-Magenis Syndrome
Hypertriglyceridemia, Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercho... OMIM:182290
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorptio... OMIM:601847
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, S... OMIM:607765
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Gastritis, Skin ras... ORPHA:809
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ratio, Splenom... OMIM:618495
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... OMIM:618523
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Diarrhea, Lymphadenopathy OMIM:240500
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97283
Late-Onset Junctional Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79406
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod... OMIM:601495
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema,... OMIM:606367
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Dysphagia ORPHA:275872
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Hypoalbuminemia, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Diarrhea, Obesity OMIM:600955
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Prote... OMIM:602579
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorpti... OMIM:211600
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... ORPHA:79333
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Polycythemia... OMIM:606812
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Decreased bo... ORPHA:247585
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... ORPHA:169154
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Chylous Ascites
Neoplasm, Abnormal intestine morphology, Pancreatitis ORPHA:1160
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Congestive... ORPHA:3386
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,... ORPHA:79240
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... OMIM:301056
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... ORPHA:2796
Self-Improving Dystrophic Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79411
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Decreased activity of mitochondrial complex III, Hyperammonemia, Vomiti... OMIM:620137
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg... ORPHA:90041
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Polymicrogy... OMIM:619708
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea OMIM:261750
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Chromosome breakage, Anal atresia OMIM:613390
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... ORPHA:54057
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97280
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Diarrhea, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:150550
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... ORPHA:83471
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... ORPHA:91547
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... ORPHA:199299
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Hypoalbuminemia, Pro... ORPHA:79327
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Diarrhea, Steatorrhea, Hyperbilirubinemia, Hepatic failure, Failure to thrive OMIM:235555
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... OMIM:600802
20Q13.33 Microdeletion Syndrome
Hematochezia ORPHA:261311
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... ORPHA:85443
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Duodenal Atresia
Duodenal atresia OMIM:223400
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Failure to thrive, Decreased proportion of naive T cells, Sk... ORPHA:276
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Elevated circulating C-reactive protei... ORPHA:32960
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric stenosis, Gastrointestinal dys... ORPHA:363705
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Cle... ORPHA:819
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Xanthelasma, Inflammation o... OMIM:232220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus,... OMIM:243700
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased body weight, Na... OMIM:607906
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, Feeding difficulties, High palate, Ga... OMIM:617157
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... ORPHA:287
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Leprechaunism
Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Hypokalemia, Hyperaldosteron... ORPHA:508
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Satoyoshi Syndrome
Diarrhea, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Cog4-Cdg
Fatal liver failure in infancy, Hypercholesterolemia, Failure to thrive in infancy, Feeding diffi... ORPHA:263501
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy... OMIM:614162
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... OMIM:602347
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Thrombocytopenia, Diarrhea, Vasculitis, Incre... ORPHA:83313
Mirage Syndrome
Hyponatremia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hyperkalemia, Patent ductus... OMIM:617053
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia ORPHA:858
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Alg8-Cdg
Hyponatremia, Abnormality of the gastrointestinal tract, Small for gestational age, Thrombocytope... ORPHA:79325
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... ORPHA:33276
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... ORPHA:758
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Behçet Disease
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... ORPHA:117
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Capillary leak, Protracted ... OMIM:615758
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Acute Lung Injury
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, P... ORPHA:589821
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... ORPHA:29207
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... OMIM:155310
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated ci... OMIM:308240
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... ORPHA:49827
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Rayn... ORPHA:93552
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... ORPHA:99826
Williams Syndrome
Elevated circulating creatine kinase concentration, Myocardial infarction, Rectal prolapse, Gastr... ORPHA:904
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number, Slender build ORPHA:352470
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix, Portal hypertension ORPHA:974
Congenital Disorder Of Glycosylation, Type Iij
Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurre... OMIM:613489
Plague
Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o... ORPHA:707
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurrent otitis m... OMIM:619575
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... ORPHA:900
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, A... ORPHA:36426
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... ORPHA:761
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenomegaly, Hyp... OMIM:619013
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Hypertension, ... OMIM:616069
Galactosemia I
Hemolytic anemia, Diarrhea, Increased level of galactitol in plasma, Vomiting, Increased level of... OMIM:230400
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... ORPHA:927
H Syndrome
Hypertriglyceridemia, Psoriasiform dermatitis, Malabsorption, Microcytic anemia, Abnormal cardiov... ORPHA:168569
Cholestasis-Lymphedema Syndrome
Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Erysipelas OMIM:214900
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure OMIM:177000
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Immunodeficiency 7
Splenomegaly, Diarrhea, Lymphadenopathy OMIM:615387
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Chronic diarrhea, Lymph node hy... OMIM:602450
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Cutaneous Mastocytoma
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype... ORPHA:79101
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Diarrhea, ... ORPHA:169105
Glycogen Storage Disease Ic
Hepatoblastoma, Spider hemangioma, Chronic pancreatitis, Cyclic neutropenia, Hyperlipidemia, Gout... OMIM:232240
Necrotizing Enterocolitis
Hyponatremia, Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Leuk... ORPHA:391673
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea ORPHA:85445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Chronic diarrhea, Decreased cir... OMIM:102700
Methanol Poisoning
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Diarrhea, Hyperlipidemia, Permanent a... ORPHA:31825
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 19
Poor suck, Feeding difficulties, Gastroesophageal reflux, Failure to thrive, Mitochondrial swelling OMIM:615595
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Elevated circulating creatine kinase... OMIM:610377
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hypoparathyroidism, High-output congestive heart fail... ORPHA:231226
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Leukopen... ORPHA:319213
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly... OMIM:617591
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Diarrhea, Neutropenia, Prolonged prothrombin time, Hi... OMIM:617941
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... OMIM:176000
Williams-Beuren Syndrome
Colonic diverticula, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Feeding di... OMIM:194050
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Failure to thrive, Abnormal T cell count, Skin rash, Abnormal B cell count, Autoimmu... ORPHA:331206
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... OMIM:616516
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase, Dysphagia ORPHA:397744
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Incre... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulating ferritin conce... OMIM:603553
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Mednik Syndrome
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... OMIM:609313
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytop... OMIM:275350
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Lymphadenopathy ORPHA:1332
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Lassa Fever
Abnormal bleeding, Nausea and vomiting, Shock, Abdominal pain, Diarrhea, Increased circulating Ig... ORPHA:99824
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy... ORPHA:1842
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Stea... OMIM:212065
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the ... ORPHA:2538
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... ORPHA:186
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Hyperammonemia, Decreased... ORPHA:42
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Intermittent diarrhea, Failure to thrive... ORPHA:289504
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Recurrent otitis medi... OMIM:617475
Mitochondrial Dna Depletion Syndrome 11
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Chronic diarrhea, Dec... OMIM:615084
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hypoparathyroidism, Anemia of inadequate production, High-output co... ORPHA:231214
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrop... OMIM:619644
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal absce... ORPHA:444490
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopath... OMIM:618805
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Abdominal pain, Minimal change glomerulonephritis, Peri... ORPHA:567548
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated plasma... OMIM:603471
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Prolonged QT interval, I... ORPHA:71212
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hig... ORPHA:369837
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... ORPHA:436252
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increase... OMIM:616005
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Le... OMIM:613989
Carcinoid Syndrome
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... ORPHA:100093
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Chronic diarrhea, Steatorrhea OMIM:619481
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiti... OMIM:264350
B4Galt1-Cdg
Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Elevated circ... ORPHA:79332
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Increased circulating renin le... ORPHA:85138
Postinfectious Vasculitis
Anorexia, Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, U... ORPHA:48435
Classic Galactosemia
Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepa... ORPHA:79239
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Anemia, Gastrointestinal inflammation ORPHA:79410
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Abdominal distention, Gastroesophage... OMIM:256300
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Pudendal Neuralgia
Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract... ORPHA:60039
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... OMIM:616457
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite, Lymphadenopathy ORPHA:2221
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Nasogastric tube feeding, Feeding difficulties, Abnormal mitochondrial shape, Dysphagia ORPHA:485421
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Uri... ORPHA:556
Cholestasis, Progressive Familial Intrahepatic, 9
Splenomegaly, Diarrhea OMIM:619849
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Cong... ORPHA:77297
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, ... ORPHA:36397
Coffin-Lowry Syndrome
Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body weight OMIM:303600
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Vomiting, Palpitations, Decreased activity of mitochondrial complex I, Hyperal... OMIM:618250
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Hypercalcemia, Peptic ulcer, Testicular neoplasm, Pituitary corticotropic ce... ORPHA:276152
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, Hypo... OMIM:603554
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiectasis, Uv... OMIM:181000
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Diarrhea... OMIM:260920
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Congestive heart failure, Diarrhea, Hyperammo... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,... OMIM:615578
Lipodystrophy, Familial Partial, Type 1
Hypertension, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Decreased body weight, Recurrent in... ORPHA:51890
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, High palate, ... OMIM:619418
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Hypotension, Arrh... ORPHA:188
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Intestinal pseudo-obstruction, Cardiac conduc... ORPHA:550
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution, Decreased circulating ant... ORPHA:221139
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Transient ischemic attack, Small for gestational age, Minimal change glomerulonephri... ORPHA:1830
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Conjugated hyper... ORPHA:567983
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... ORPHA:565
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperaldosteronism, Vomiting, Increas... OMIM:177735
Acrodermatitis Enteropathica
Glossitis, Poor appetite, Anorexia, Malabsorption, Pustule, Chronic diarrhea, Cheilitis, Furrowed... ORPHA:37
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarrhea, Lympha... ORPHA:31205
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... ORPHA:330001
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea,... ORPHA:549
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Lymphadenopathy ORPHA:411703
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape, Dysphagia ORPHA:412217
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Polycystic ovaries, Macroglossia, Hypercholestero... ORPHA:528
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobu... OMIM:251260
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Failure to thrive in infancy, Portal hypertension, Feeding difficulties in infancy,... OMIM:613385
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... ORPHA:66628
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Failure to thrive, Reticulocytosis, Anisocytosis, Diarrhea, Leukocytosis, Hepat... OMIM:618278
Omenn Syndrome
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Erythroderma,... ORPHA:39041
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... ORPHA:179494
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed... OMIM:620358
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Testicular neoplasm,... ORPHA:143
Dpm1-Cdg
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome... ORPHA:79322
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... OMIM:613471
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Hyperlipoproteinemia, Type I
Pancreatitis, Hyperlipidemia, Splenomegaly, Episodic abdominal pain, Hepatosplenomegaly, Lactesce... OMIM:238600
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Hyperlipidemia, Elevated circulating creatinine concentration, Schisto... OMIM:235400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... OMIM:615508
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... ORPHA:454831
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Anorexia, Cryptorchidism, Diarrhea, Hyperkale... ORPHA:361
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Right ventricular failure, Abdomi... ORPHA:100085
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Atrial fibrillation, Keratitis, Congestive heart failure, Diar... ORPHA:525731
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro... OMIM:242700
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Congestive heart failure, Diarrhea, Recurrent pneumonia, Splenomeg... OMIM:309900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... OMIM:608836
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, H... ORPHA:79083
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Chronic active hepatitis, Decrease... OMIM:203800
Fanconi-Bickel Syndrome
Failure to thrive, Hypertriglyceridemia, Abdominal distention, Hypophosphatemia, Hepatocellular c... ORPHA:2088
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia OMIM:252930
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... OMIM:226730
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Hyperlipidemia, Hepatocellular carcinoma, Hypertrophic cardiomyopathy, Fail... ORPHA:369
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertrophic ca... ORPHA:2348
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Testicular neoplasm,... ORPHA:99880
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Elevated circula... OMIM:223900
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Osteoma, ... ORPHA:261584
Cholera
Hyponatremia, Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentrati... ORPHA:173
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... OMIM:255120
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arrhythmia, Microcolon ORPHA:163746
Reni Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia OMIM:617575
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:363400
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated card... ORPHA:20
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage... ORPHA:520
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Acute myeloid leukemia, Testicular neoplasm, Ovarian neoplasm, Neoplasm... ORPHA:524
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Patent ductus arteriosus, Ulce... OMIM:617137
Abetalipoproteinemia
Abnormal bleeding, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, A... ORPHA:14
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Hepatic ne... ORPHA:90062
Glycogen Storage Disease Ixa1
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... OMIM:601675
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activit... ORPHA:17
Lig4 Syndrome
Abnormality of chromosome stability, Pancytopenia, Telangiectasia of the skin, Malabsorption, Cry... ORPHA:99812
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Vomiting, Hyperurice... ORPHA:134
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, I... ORPHA:79276
Lysinuric Protein Intolerance
Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutr... OMIM:222700
Colchicine Poisoning
Hyponatremia, Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Abnormal blood ion co... ORPHA:31824
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the th... ORPHA:567
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ... OMIM:615688
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... ORPHA:3240
Diamond-Blackfan Anemia 7
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Eso... OMIM:612562
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... ORPHA:79351
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Cons... ORPHA:93932
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... OMIM:214700
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, Ar... ORPHA:36412
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Failure to thrive, Small for gestational age, Thrombocytos... OMIM:222470
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Ga... OMIM:620233
Caroli Disease
Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conjugated hyperbi... ORPHA:53035
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Micr... ORPHA:99843
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip... ORPHA:538
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Petechiae ORPHA:51188
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties, Fail... OMIM:602473
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Splenomegaly, Chronic diarrhea, Aplasia of the... OMIM:612132
Blue Diaper Syndrome
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia OMIM:256700
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Failure to thrive, Decreased testicu... OMIM:201100
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:612782
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Glomerulonephritis, Anal fissure, Dilated cardiomyopathy, Malnutrition... ORPHA:79408
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abd... ORPHA:420741
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... ORPHA:263455
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Poor suck, Elevated circulating creatine kinase con... OMIM:619518
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb... ORPHA:1667
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:306400
Acute Adrenal Insufficiency
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Orthostatic hypotension,... ORPHA:95409
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi... ORPHA:2457
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Patent ductus arteriosus, Pyelonephritis, Bidir... OMIM:619351
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Diarrhea OMIM:252920
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting,... OMIM:619991
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... OMIM:256810
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,... ORPHA:514
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abno... ORPHA:221008
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... OMIM:115310
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hypertension, ... OMIM:604367
Deeah Syndrome
Decreased hemoglobin concentration, Decreased heart rate variability, Decreased response to growt... OMIM:619004
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Pancreatic cysts, Esophageal varix, Hypertension OMIM:263200
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Abnormality of chromosome stability, Autoimmune hemolytic anemia... ORPHA:647
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea OMIM:252900
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Dilated cardiomyopathy, Malnutrition,... ORPHA:79404
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... ORPHA:263297
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hypertriglyceridemia, Telangiectasia of the skin OMIM:615381
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral ... ORPHA:2556
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated circulating creatinine concentration, S... ORPHA:230
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... OMIM:225400
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... ORPHA:2131
Rothmund-Thomson Syndrome Type 2
Calcinosis, Small for gestational age, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abno... ORPHA:221016
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Diarrhea, Dila... OMIM:610768
Dubowitz Syndrome
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... OMIM:223370
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... OMIM:300972
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Panhypopituitarism, Decreased testicular size, Chronic decreased circulating IgG1 OMIM:300953
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Vomiting, Conjunctivit... ORPHA:533
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Cryptorchidism, Overweight, Chronic diarrhea, Chronic constipati... ORPHA:500055
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Poor appetite, Anorexia, Bowel urgency, Right ventricular fai... ORPHA:97287
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Diarrhea, Feeding diffi... OMIM:606721
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Diarrhea,... ORPHA:2331
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... OMIM:253260
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor... OMIM:307030
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Diarrhea, Xanthelasma, Pseudobulbar paralysis, Abnormal c... OMIM:213700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233710
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, ... ORPHA:139402
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... ORPHA:280365
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Failure to thrive, Sinusitis, Elevated circulating alph... OMIM:208900
Cholestasis, Progressive Familial Intrahepatic, 6
Bleeding requiring red cell transfusion, Conjugated hyperbilirubinemia, Chronic diarrhea, Failure... OMIM:619484
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Cholelithiasis, Anem... ORPHA:231222
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hyperkalemia, Hypovolemia, ... ORPHA:427
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Angina pectori... ORPHA:412
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia OMIM:617666
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea OMIM:229600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Feeding difficulties, Decreased serum zinc, Esophagitis, Hepatic failure ORPHA:541423
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... ORPHA:124
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thro... ORPHA:77293
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Diarrhea,... ORPHA:653
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Congestive heart fa... ORPHA:247353
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
Cockayne Syndrome Type 1
Cryptorchidism, Diarrhea, Uveitis, Hypertension, Conjunctivitis, Increased blood urea nitrogen, F... ORPHA:90321
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit... ORPHA:90289
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Long uvula, Cryptorchidism, Narrow palate, Keratoconjunctivitis sicca, Peri... ORPHA:536532
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Microphthalmia, Syndromic 1
Aganglionic megacolon, Pyloric stenosis, Rectal prolapse, Cryptorchidism, High, narrow palate, Hi... OMIM:309800
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis OMIM:608654
Glycogen Storage Disease Ia
Abnormal bleeding, Hyperlipidemia, Gout, Xanthelasma, Hypertension, Hyperuricemia, Protuberant ab... OMIM:232200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting OMIM:618321
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid... ORPHA:699
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy OMIM:602541
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Esopha... ORPHA:99921
Trichohepatoneurodevelopmental Syndrome
Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglossia, Gas... OMIM:618268
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... OMIM:614921
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Achalasia, Ab... ORPHA:324
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Chronic dia... OMIM:619005
Xp21 Deletion Syndrome
Nausea and vomiting, Hypertriglyceridemia, Recurrent otitis media, Elevated circulating creatine ... ORPHA:261476
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Common Variable Immunodeficiency
Pneumonia, Gastrointestinal stroma tumor, Lymphoma, Vasculitis, Bronchiectasis, Otitis media, Chr... ORPHA:1572
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitat... OMIM:252940
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Pancreatitis, Polycystic ovaries ORPHA:435651
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizi... OMIM:617253
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Thrombocytopenia, Reticulocytopenia, Neutr... ORPHA:101096
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... ORPHA:99889
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia OMIM:617827
Hardikar Syndrome
Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Patent ductus arte... OMIM:301068
Japanese Encephalitis
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ... ORPHA:79139
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neo... ORPHA:348
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Cardiomyopathy, Abnormal granulocyte morphology, Abnormal circulat... ORPHA:98907
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... OMIM:105210
Rothmund-Thomson Syndrome
Calcinosis, Telangiectasia of the skin, Skin rash, Small for gestational age, Aplastic anemia, Na... ORPHA:2909
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Abnormal cardiovascular system physiology, Polycystic o... ORPHA:79086
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Vomiting, Hypocalcemia, A... ORPHA:94093
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Increased LDL cholesterol concentration, Cholesterol ga... ORPHA:209902
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Griscelli Syndrome Type 2
Nausea and vomiting, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, P... ORPHA:79477
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Bile duct proliferation OMIM:613027
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Skin rash, Elevated circulating C-reactive protein con... ORPHA:50918
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... ORPHA:99228
Monosomy X
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... ORPHA:881
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Cryptorchidism, Patent ductus arteriosus, Telangiectasia, Constipation, Esophagitis, D... ORPHA:495818
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... ORPHA:3342
Gitelman Syndrome
Tubulointerstitial nephritis, Iron deficiency anemia, Hypocalcemia, Prominent U wave, Abnormal T-... ORPHA:358
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infa... ORPHA:280633
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Hyperlipidemia, Failure to thrive ORPHA:2089
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Hypovolemia, Bicarbonaturia, Hypokalemia, Vomiting, Failure to thrive ORPHA:47159
Lipodystrophy, Familial Partial, Type 5
Hypertension, Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Sandhoff Disease
Orthostatic hypotension, Chronic diarrhea, Hepatosplenomegaly, Episodic abdominal pain, Macroglossia OMIM:268800
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Hepatic ... OMIM:118450
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia OMIM:612199
Orofaciodigital Syndrome Type 4
Monorchism, High, narrow palate, Rectal atresia, Submucous cleft hard palate, Cleft palate, Feedi... ORPHA:2753
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Steinert Myotonic Dystrophy
Prolonged QRS complex, Intestinal pseudo-obstruction, Decreased response to growth hormone stimul... ORPHA:273
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Episod... ORPHA:405
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Tangier Disease
Hypertriglyceridemia, Abdominal pain, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, ... ORPHA:31150
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Cachexia, Narrow pala... ORPHA:109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Feeding difficulties in infancy, Nasoga... ORPHA:508488
Mowat-Wilson Syndrome
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... ORPHA:2152
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Obesity, Anemia OMIM:620072
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycystic ovaries ORPHA:435660
Ogden Syndrome
Ventricular tachycardia, Iron deficiency anemia, Vomiting, High palate, Supraventricular tachycar... OMIM:300855
Sacral Defect With Anterior Meningocele
Rectal abscess, Constipation OMIM:600145
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Diarrhea, Hypoplasia of the ovary, Gastroesophageal ref... ORPHA:79328
Farber Disease
Failure to thrive, Thrombocytopenia, Chronic diarrhea, Feeding difficulties, Hepatosplenomegaly, ... ORPHA:333
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia, Acne, Seborrheic dermatitis OMIM:614441
Mucopolysaccharidosis Type 3
Malabsorption, Splenomegaly, Atrioventricular block, Macroglossia, Reduced left ventricular eject... ORPHA:581
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Hypokalemia, Constipation, Vomiting, Failure to thrive ORPHA:18
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Cryptorchidism, Hyperlipidemia, Obesity, Cleft palate, Mitral regurgitation... ORPHA:254346
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Pneumonia, Cryptorchidism, Feeding difficulties,... OMIM:264090
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for... OMIM:601678
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, First degree atrioventricular block, Anorexia, Abdo... ORPHA:509
Arteriosclerosis, Severe Juvenile
Anemia, Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties OMIM:615356
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Polycystic ova... OMIM:151660
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abdominal obesi... OMIM:615980
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Hurler Syndrome
Angina pectoris, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cardiomyopathy, Hypertensi... ORPHA:93473
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit... ORPHA:466677
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Thyroid hyperplasia, Weight loss ORPHA:99819
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, Feeding difficulties... ORPHA:2255
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... ORPHA:1359
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Chronic pancreatitis, Congestive heart failure, Obesity, Pineal cyst, Cardi... ORPHA:98908
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c, Mitral regurgitation, Hig... OMIM:619127
Chikungunya
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema no... ORPHA:324625
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Atypical Werner Syndrome
Decreased body weight, Hypertriglyceridemia, Telangiectasia of the skin, Failure to thrive, Conge... ORPHA:79474
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... OMIM:617140
Dermatomyositis
Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, Gastrointesti... ORPHA:221
Wolfram Syndrome 2
Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Patent ductus arteriosus, Pulmonic stenosis, Colon pe... OMIM:600001
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Gas... OMIM:619472
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Chron... OMIM:615873
Occipital Horn Syndrome
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, Low-to-n... OMIM:241200
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Polycystic ovari... OMIM:269700
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... ORPHA:363618
Aspartylglucosaminuria
Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macroorc... OMIM:208400
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Familial Multiple Lipomatosis
Hyperlipidemia, Functional intestinal obstruction ORPHA:199276
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... ORPHA:198
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Cardiomyopathy OMIM:608594
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... ORPHA:189427
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Recurrent skin infections, Decreased response to growth hormone stimulation... ORPHA:3455
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Diarrhea, Congestive heart failure, Splenomeg... ORPHA:3385
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Gastroesop... ORPHA:64
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... ORPHA:86816
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... ORPHA:2968
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Periodontitis, Abnormality of the ovary ORPHA:722
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... ORPHA:97685
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Celiac disease, Hyperlipidem... ORPHA:293987
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatine kinase conce... ORPHA:565612
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Transient ischemic attack, Failure to thrive in infancy, Feedi... ORPHA:500150
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Cardiomyopathy, Hypertension, A... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Cardiomyopathy, Hypertension, A... ORPHA:217093
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Submucous cleft hard p... ORPHA:1662
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Patent d... OMIM:135900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Abdominal pain, Pulmonary embolism, Minimal change glomerulonephritis, Hyperlipidemia, Hydrocele ... ORPHA:567546
Mucopolysaccharidosis Type 2
Splenomegaly, Chronic diarrhea, Cardiomyopathy, Hypertension, Macroglossia, Hip osteoarthritis, A... ORPHA:580
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Mitochondrial respiratory chain defects ORPHA:909
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hyperlipidemia, High palate ORPHA:90153
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Hyp... ORPHA:91
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... ORPHA:391665

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 Muc2

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 Muc2.

No publications found that use IMPC mice or data for Muc2.

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
Muc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Muc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Muc2tm119193(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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