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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
Abdominal pain, Diarrhea OMIM:612119
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Lactose Intolerance, Adult Type
Lactose intolerance, Abdominal pain, Diarrhea, Flatulence OMIM:223100
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... ORPHA:329971
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... ORPHA:326
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... OMIM:615767
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Abnormal bleeding... ORPHA:319218
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, ... ORPHA:157794
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... OMIM:174900
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Impaired lymph... OMIM:617006
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy ORPHA:99977
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... ORPHA:2869
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Gastrointestinal hemorrhage, Intestinal bleeding... ORPHA:79076
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Rec... ORPHA:90038
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Colitis, Ch... OMIM:619164
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Increas... OMIM:301000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh... OMIM:616050
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Gastroesophageal reflux, Abdominal colic, Abdominal pain, Constipation, Abdom... ORPHA:35122
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Right ventricular failure, Tricu... ORPHA:100075
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... ORPHA:100082
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... ORPHA:464321
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased circulating iron concentration, Increased mean corpuscular v... ORPHA:98870
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Acquired Von Willebrand Syndrome
Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... ORPHA:99147
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr... ORPHA:100080
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio... ORPHA:331
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo... OMIM:276300
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina... ORPHA:873
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... OMIM:301074
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Purpura, Increased circulating interferon-gamma conc... ORPHA:540
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Vasculitis, Bl... OMIM:617718
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Appendiceal mucinous n... ORPHA:100079
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Hyperphosphatemia, Decreased body weight, Acute tubulointerstitial nephritis, Glomerulo... ORPHA:340
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... ORPHA:44890
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the ovary, Nausea and vo... ORPHA:543
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Failure to thri... OMIM:615863
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Iron deficiency anemia, Thrombocytopenia, Rectal prolapse, Intussu... OMIM:112200
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... ORPHA:436159
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Neoplasm of the pancreas, Ovari... OMIM:175200
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Abnormal circulating interleukin concentration, Reduced natural killer cell coun... ORPHA:158057
Caroli Syndrome
Hepatic failure, Abnormal bleeding, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, ... ORPHA:480520
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Malabsorption, Ab... ORPHA:95427
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Hypercholesterolemia, Hypertriglyce... ORPHA:75234
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Duodenal adenocarcinoma, Duodenal po... OMIM:175100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodos... ORPHA:99827
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failure to thrive,... OMIM:614602
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Adenocarcinoma Of The Esophagus
Feeding difficulties in infancy, Gastroesophageal reflux, Nausea and vomiting, Lymphadenopathy ORPHA:99976
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea OMIM:610370
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Volvulus, Gastrointestinal infarctions, Skin rash, ... ORPHA:1059
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Congestive heart failure, Leukocyt... ORPHA:67
Diarrhea 9
Diarrhea OMIM:618168
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Punctate Palmoplantar Keratoderma Type 1
Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophageal neop... ORPHA:79501
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Decreased proport... ORPHA:911
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Hepatitis, Anorexia, Retinal hemorrhage, Skin rash, Infecti... ORPHA:319251
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage OMIM:602248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Turcot Syndrome With Polyposis
Hematochezia, Melena, Diarrhea, Vomiting, Pituitary adenoma, Adenomatous colonic polyposis, Intes... ORPHA:99818
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai... ORPHA:97286
Sepsis In Premature Infants
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Elevated circulating C-reacti... ORPHA:90051
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea ORPHA:103907
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... ORPHA:810
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr... OMIM:276700
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Giant cell hepatitis, Prolonged prothrombin time, Fat malabsorption OMIM:214950
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Rabies
Diarrhea, Nausea and vomiting, Anorexia ORPHA:770
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea OMIM:223000
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Dilated card... ORPHA:3243
Brunner Syndrome
Diarrhea OMIM:300615
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neova... OMIM:158310
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Hepatitis, Splenomegaly, Prolonged prothrombin time, Ach... OMIM:613812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Reticular Dysgenesis
Diarrhea, Failure to thrive, Leukopenia, Malabsorption, Abnormality of mitochondrial metabolism, ... ORPHA:33355
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding ORPHA:79301
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta... OMIM:620632
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased HDL cholesterol concentration, ... OMIM:278000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Failure to thrive, Feeding difficulties, Weight loss... OMIM:620045
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Chylomicron Retention Disease
Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hypoch... OMIM:246700
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, ... OMIM:620565
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m... OMIM:619381
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co... ORPHA:544482
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura... OMIM:619510
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,... OMIM:620603
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Abnormality of the mitochondrion, Nausea, Gastrointe... ORPHA:298
Intussusception
Intussusception OMIM:147710
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... ORPHA:388
Multiple Endocrine Neoplasia Type 1
Diarrhea, Increased circulating cortisol level, Shortened QT interval, Pituitary prolactin cell a... ORPHA:652
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Esophageal varix OMIM:617341
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Infectious encephalitis, Arrhythmia,... ORPHA:99745
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari... OMIM:226300
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy, Decreased activity of mitochondrial c... OMIM:619063
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia, M... ORPHA:48104
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... ORPHA:2137
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Hypertriglyceridemia, Transient Infantile
Vomiting, Splenomegaly, Failure to thrive, Hypertriglyceridemia OMIM:614480
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... ORPHA:99828
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Failure to thrive, Meconium ileus, Exocrine pancreatic insufficien... OMIM:219700
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonitis, Enterocolitis, Periana... ORPHA:2686
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Decreased ... OMIM:618378
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small ... ORPHA:2929
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel... OMIM:613501
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal fissure, Lymphopenia, ... OMIM:618935
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Reduced natural killer cell count, Oral leukoplakia, Pancyto... OMIM:620133
Lynch Syndrome
Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas... ORPHA:144
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Maculopapular... OMIM:142680
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:324964
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Panc... OMIM:618963
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomeg... OMIM:209950
Dubowitz Syndrome
Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Malabsorption, Acute lymphoblas... ORPHA:235
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Pneumonia, Hepatitis, Atopic dermatitis, ... OMIM:615846
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating C-reactive pro... OMIM:620376
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology, Abdominal distention, Abdominal pain ORPHA:677
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int... OMIM:619858
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Congestive heart failure, Increased LDL cholesterol conc... OMIM:615703
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Uveitis, Epistaxis, Congestive heart failure, ... ORPHA:727
Small Bowel Atresia
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... ORPHA:1201
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Intestinal ... ORPHA:2930
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Inflammatory abnormality of the s... ORPHA:398063
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-... ORPHA:572
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hypert... ORPHA:247598
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia ORPHA:101009
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hypertrophic cardiomyopat... OMIM:201475
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Recurr... OMIM:615607
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia... OMIM:600376
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F... OMIM:304790
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Folate Malabsorption, Hereditary
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... OMIM:229050
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive, Recurrent... ORPHA:277
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Multiple lipomas, Acholic ... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liv... OMIM:608104
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Giant cell hepatitis ORPHA:79095
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... ORPHA:98850
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Hemangioma, Patent duc... ORPHA:90308
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Prolonged bleeding fol... ORPHA:79259
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Pheochromocytoma, Nausea and vomit... ORPHA:139411
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Ileus, Splenomegaly, Bra... OMIM:613327
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthelasma, Fatal liver failur... ORPHA:275761
Enterokinase Deficiency
Diarrhea OMIM:226200
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... ORPHA:3260
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertri... OMIM:603552
Syndromic Diarrhea
Aortic regurgitation, Abnormality of iron homeostasis, Intractable diarrhea, Small for gestationa... ORPHA:84064
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Gastric varix, Prolonged pro... ORPHA:64743
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Decreased pineal volume OMIM:301108
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Abdomina... ORPHA:98849
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia OMIM:606764
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, B-cell ly... OMIM:620532
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park... OMIM:619705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Cryptorchid... OMIM:235510
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hy... OMIM:618183
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Diarrhea,... ORPHA:79124
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Splenomegaly, Elevated circulating creatin... ORPHA:264580
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG leve... ORPHA:90362
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Petechiae, Keratoconjuncti... ORPHA:91138
Erythroderma Desquamativum
Diarrhea ORPHA:314
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Sudden cardiac death, Hypert... OMIM:610947
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Decreased circulating antibod... ORPHA:90045
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Dilated cardiomyopathy, Decreased mitochondrial number, Elevated circulating creatine k... ORPHA:352447
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypotension, Malnutrition, Erythroderma, Abdomin... ORPHA:79456
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ... ORPHA:33110
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Gastroesophageal reflux, Hypoplasia of the thymus, Rectal ... OMIM:613177
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to ... ORPHA:169160
Spastic Paraplegia Type 7
Dysphagia, Abnormal mitochondrial morphology ORPHA:99013
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr... OMIM:603041
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med... ORPHA:229717
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count,... OMIM:607594
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... OMIM:300400
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Chronic diarrhea, Agammaglobulinemia, Monoc... OMIM:615592
Neurofibroma
Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom... ORPHA:252183
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Increased circulating IgE level, Villous atrophy, Duodenitis, Pus... OMIM:614328
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Atro... OMIM:619573
Temple Syndrome
Bifid uvula, Recurrent otitis media, Decreased testicular size, Feeding difficulties, Obesity, Cr... OMIM:616222
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Immunodeficiency 46
Failure to thrive, Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropen... OMIM:616740
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy... OMIM:614069
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Cystic Fibrosis
Gastroesophageal reflux, Bronchiectasis, Decreased body mass index, Meconium ileus, Failure to th... ORPHA:586
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia, Acanthocytosis, Abdominal distention,... ORPHA:71
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... OMIM:619971
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Intermittent diarrhea, Feeding difficulties OMIM:620270
Primary Sclerosing Cholangitis
Cholelithiasis, Uveitis, Spider hemangioma, Hepatitis, Palmar telangiectasia, Congestive heart fa... ORPHA:171
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count, Recurrent ... OMIM:240500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Increased circulating fe... OMIM:619313
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... OMIM:615617
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Monosomy 13Q34
Hematochezia, Pulmonic stenosis, Epistaxis, Prolonged prothrombin time ORPHA:96168
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Decreased activity of mitochondrial complex IV, Cachexia, ... OMIM:612075
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... ORPHA:793
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Iron deficiency... ORPHA:309031
Somatostatinoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97283
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Abnormal ... ORPHA:449285
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... OMIM:239300
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Eczematoid dermatitis, Celiac disease, Failure to thrive, Recurrent aphthous ... OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption, Hepa... OMIM:601847
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, ... ORPHA:486
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Failure to thrive, Hypocholesterolemia, Splenome... OMIM:607765
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Bruising susceptibility, Superficial ... ORPHA:324636
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... ORPHA:39812
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly... ORPHA:470
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,... ORPHA:809
Chylous Ascites
Abnormal intestine morphology, Neoplasm, Pancreatitis ORPHA:1160
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Decreas... OMIM:601495
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Malar rash, Autoimmune hemolytic anemia, Sple... OMIM:603909
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercholesterolemia, Hypertri... OMIM:182290
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi... OMIM:618495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Fumarase Deficiency
Hepatic failure, Polycythemia, Failure to thrive, Mitochondrial swelling, Hyperbilirubinemia, Dec... OMIM:606812
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c... OMIM:607271
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thri... OMIM:602579
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Vomiting, Diarrhea, Hypotension, Increased circul... ORPHA:542323
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Failure to thrive, Constipation ORPHA:309162
Cocaine Intoxication
Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestina... ORPHA:90068
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinem... OMIM:211600
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Chronic diarrhea, Malabsorption, Abdominal distention OMIM:606824
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, Gloss... ORPHA:47
Citrullinemia Type Ii
Hypoalbuminemia, Vomiting, Diarrhea, Decreased body mass index, Decreased HDL cholesterol concent... ORPHA:247585
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased pr... ORPHA:169154
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Celiac disease, Gastrointestinal eosino... ORPHA:90363
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephali... ORPHA:3386
Cog7-Cdg
Diarrhea, Failure to thrive, Hepatosplenomegaly, Elevated circulating creatine kinase concentrati... ORPHA:79333
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Hyperammonemia, Pancreatitis, Decreased activity of mitochondrial complex III... OMIM:620137
Thrombotic Thrombocytopenic Purpura
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decre... ORPHA:54057
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Relapsing Fever
Epistaxis, Hypotension, Vomiting, Diarrhea, Abnormal bleeding, Increased total bilirubin, Elevate... ORPHA:91547
Polycythemia Vera
Early satiety, Gingival bleeding, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism... ORPHA:729
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Duodenal Atresia
Duodenal atresia OMIM:223400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Vomiting, Diarrhea, Splenomegaly, Elevated circulating creatine kinase concentration, Increased b... ORPHA:79240
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Frontotemporal Dementia With Motor Neuron Disease
Dysphagia, Abnormal mitochondrial morphology ORPHA:275872
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Polymicrogyria, Absent uvula, Intestinal atresia, Rectovagin... OMIM:619708
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Late-Onset Isolated Acth Deficiency
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Celiac disease, Abdomin... ORPHA:199299
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Leukopenia, Cryptorchidism, Elevated circulating creatine kinase concentration, Feedi... OMIM:301056
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption, Decreased circulating cortisol level OMIM:600955
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... OMIM:192315
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Vasculitis, Vira... ORPHA:91139
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea, Splenomegaly, Lymphadenopathy OMIM:150550
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Hypotension, Malabsorption, Infectious encephalit... ORPHA:3452
20Q13.33 Microdeletion Syndrome
Hematochezia ORPHA:261311
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Abnormalit... ORPHA:79327
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Increased circulating antibo... ORPHA:69126
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Diarrhea, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:235555
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Maculopapular Cutaneous Mastocytosis
Nausea, Vomiting, Diarrhea, Abdominal pain ORPHA:79457
Dracunculiasis
Diarrhea, Nausea and vomiting ORPHA:231
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Absent natural killer cells, Failure to thrive, Panhypogammaglobulinemia, Recurrent ot... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Reduced natural killer cell count, Diarrhea, Abnormal... ORPHA:276
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Abno... ORPHA:85443
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Monoclonal immunoglobulin M... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate OMIM:601110
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h... OMIM:177850
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai... ORPHA:363705
Smith-Magenis Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Feeding difficulties in infancy, ... ORPHA:819
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien... OMIM:607906
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly OMIM:261750
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... OMIM:614162
Boutonneuse Fever
Vasculitis, Diarrhea, Leukopenia, Skin rash, Petechiae, Nausea, Thrombocytopenia, Increased circu... ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Panniculitis, Increa... OMIM:617099
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... OMIM:131100
Classical Ehlers-Danlos Syndrome
Vomiting, Gastroesophageal reflux, Prolonged bleeding time, Bruising susceptibility, Arterial rup... ORPHA:287
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de... OMIM:176000
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Glycogen Storage Disease Ib
Inflammation of the large intestine, Xanthelasma, Gout, Splenomegaly, Hyperuricemia, Hyperlipidem... OMIM:232220
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive, Obesity, Pseudohypoparathyroid... OMIM:617157
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Recurrent infection of the gastrointestinal tra... ORPHA:263501
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Hepatic failure, Abnormal T cell count, Aplasti... OMIM:308240
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Increased circulating prolacti... ORPHA:35708
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Rectovaginal fistula, Absent natural killer... ORPHA:35078
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Intestinal obstruction, Abno... ORPHA:2591
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab... ORPHA:178320
Leprechaunism
Megarectum, Failure to thrive, Hyperaldosteronism, Hypertrophic cardiomyopathy, Decreased body we... ORPHA:508
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o... ORPHA:70578
Pachydermoperiostosis
Neoplasm of the skin, Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyel... ORPHA:2796
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Tracheoes... ORPHA:537
Galactosemia I
Increased level of galactitol in red blood cells, Vomiting, Diarrhea, Failure to thrive, Decrease... OMIM:230400
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe... ORPHA:96180
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Skin rash, Hype... ORPHA:758
Fanconi Anemia, Complementation Group O
Chromosome breakage, Anal atresia, Cryptorchidism, Rectal atresia OMIM:613390
Congenital Toxoplasmosis
Anemia, Failure to thrive in infancy, Diarrhea, Thrombocytopenia ORPHA:858
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... ORPHA:2908
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Skin rash, Abnormality of the gastrointestinal tract, Weight... ORPHA:33276
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Alg8-Cdg
Vomiting, Diarrhea, Failure to thrive, Hyponatremia, Abnormality of the gastrointestinal tract, T... ORPHA:79325
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Bruising susceptibility, Fasciitis, Leukocyt... ORPHA:32960
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Interface hepatitis, Sclerosi... ORPHA:562639
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinem... OMIM:250940
Mirage Syndrome
Gastroesophageal reflux, Hyperkalemia, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased t... OMIM:617053
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Failure to thrive, Protract... OMIM:615758
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Pancreatitis, ... ORPHA:36426
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Bundle branch block, Obesity, Encopresis, Decreased body weigh... ORPHA:589821
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Recurrent otitis media, Chronic constipation, Feeding difficul... OMIM:619575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc... ORPHA:49827
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, N... ORPHA:761
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia... ORPHA:93552
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, H... ORPHA:927
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... ORPHA:93672
Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Prostatitis, Arrhythmia, Inflammatory abnormality of... ORPHA:900
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Hyperprolinemia Type 2
Diarrhea, Hyperglycinemia, Hyperprolinemia, Hyperalaninemia, Abdominal pain, Dysphagia, Feeding d... ORPHA:79101
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomega... OMIM:613489
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Feeding difficulties in ... OMIM:619013
Immunodeficiency 7
Diarrhea, Splenomegaly, Lymphadenopathy OMIM:615387
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemi... OMIM:251000
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension, Esophageal varix ORPHA:974
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Epistaxis, Gastroesophageal reflux, Bruising susceptibility, Malabsorption, ... ORPHA:285
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Increa... OMIM:619377
Williams Syndrome
Nausea and vomiting, Mitral regurgitation, Cryptorchidism, Polycystic ovaries, Abdominal pain, Re... ORPHA:904
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc... ORPHA:99826
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Small for gestational age, Hypoactive bowel sounds, Shock, Leuko... ORPHA:391673
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... OMIM:116920
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:616069
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczematoid dermatitis, Hypertriglyceridemia, Hemolytic anemia OMIM:177000
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Vomiting, Diarrhea, Failure to thrive, Decreased circulating IgA... OMIM:275350
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... OMIM:615207
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr... ORPHA:394
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Xanthelasma, Gout, Ch... OMIM:232240
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Methanol Poisoning
Vomiting, Diarrhea, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy, Cer... ORPHA:31825
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Good Syndrome
Diarrhea, Decreased circulating antibody level, Abnormal leukocyte morphology, Thrombocytopenia, ... ORPHA:169105
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Chr... OMIM:256040
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea OMIM:615399
Yellow Fever
Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Excessive bleeding after a venipuncture, Ne... ORPHA:99829
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Cardiomyopathy, Skin rash, Punctate vasculitis skin lesio... ORPHA:247691
Ileal Neuroendocrine Tumor
Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu... ORPHA:100078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Exocrine pancreatic insufficienc... ORPHA:1333
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Lujo Hemorrhagic Fever
Diarrhea, Lymphopenia, Excessive bleeding after a venipuncture, Elevated circulating C-reactive p... ORPHA:319213
Mevalonic Aciduria
Vomiting, Diarrhea, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Mo... OMIM:610377
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopa... OMIM:212140
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Elevated creatine kinase after exercise ORPHA:352470
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Acholic stools, Nausea and vomiting, Weight loss, Pancreatitis, Anorexia, Abdomin... ORPHA:65682
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, My... OMIM:617591
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Visceral angiomatosis, Retinal telangiectasia, Esoph... ORPHA:774
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic failure, Hepatitis, Abnormal circulating lipid concentration, Xanthelasm... ORPHA:186
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic... OMIM:617941
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Malabsorption... ORPHA:83471
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia ORPHA:178029
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Failure to thrive, Protrac... ORPHA:331206
Lassa Fever
Diarrhea, Abnormal bleeding, Shock, Nausea and vomiting, Abdominal pain, Conjunctivitis, Increase... ORPHA:99824
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Increased circulating very long-chain fatty acid... OMIM:609313
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... ORPHA:2538
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin... ORPHA:342
Familial Chylomicronemia Syndrome
Pulmonary embolism, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, High palate, Chronic otitis media, Hypertriglyceridemia OMIM:618010
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Failure to thrive, Mitochondrial swelling, Feeding difficulties, Poor suck OMIM:615595
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Arrhythmia, Elevated circulating c... OMIM:616516
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Hepatitis, Failure to thriv... OMIM:308230
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Sh... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Cardiomy... OMIM:212065
Combined Malonic And Methylmalonic Acidemia
Vomiting, Failure to thrive, Nasogastric tube feeding, Dicarboxylic acidemia, Intermittent diarrh... ORPHA:289504
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Lymphadenopathy ORPHA:1332
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Weight loss, Anemi... ORPHA:1842
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... ORPHA:42
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... ORPHA:90291
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Villous atrophy, M... OMIM:557000
Williams-Beuren Syndrome
Colonic diverticula, Gastroesophageal reflux, Recurrent otitis media, Failure to thrive in infanc... OMIM:194050
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges... OMIM:302060
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... OMIM:617321
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neut... OMIM:617475
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Abdominal distention, Hypoproteinemia, ... OMIM:256300
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV, Elevated circulating crea... OMIM:615084
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Pancreatitis, Hypertriglyceridemia, Elevated plasma citrulline,... OMIM:603471
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Acute hepatic failure, Hepatosplenomega... OMIM:619644
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Microvillus Inclusion Disease
Diarrhea, Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Hyp... ORPHA:2290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Abnormal circulating lipi... ORPHA:567548
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Gastrointestinal hemorrhage, Cryptorchidism, Esophageal stricture OMIM:613990
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons... ORPHA:3463
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Pancrea... OMIM:618805
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Ps... ORPHA:436252
Behçet Disease
Nausea and vomiting, Mitral regurgitation, Anorexia, Abdominal pain, Endocarditis, Aortic regurgi... ORPHA:117
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hypophosphatemia, Steatorrhea OMIM:605911
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Lissencephaly, X-Linked, 2
Decreased testicular size, Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Restrictive cardiomyopathy, Decreased circulating I... ORPHA:369837
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Aplastic anemia, Oral leukoplakia, Failure to thrive, Pancytopenia, Leuko... OMIM:613989
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Lymphadenopathy ORPHA:411703
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis,... OMIM:616457
B4Galt1-Cdg
Inflammatory abnormality of the skin, Diarrhea, Abnormal bleeding, Splenomegaly, Elevated circula... ORPHA:79332
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormal proportion of naive CD4 T cells, Failure to thrive, C... ORPHA:1830
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Vomiting, Diarrhea, Hepatitis, Congestive heart failure, Ly... ORPHA:454836
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Lack of bowel sounds, Right ventri... ORPHA:100093
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... OMIM:612782
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Lymphadenopathy, Poor appetite ORPHA:2221
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Decreased circulating carnitine ... ORPHA:71212
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Parenteral Nutrition-Associated Cholestasis
Hepatic failure, Cholelithiasis, Villous atrophy, Hyperlipidemia, Splenomegaly, Portal hypertensi... ORPHA:567983
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea... OMIM:617765
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Feeding dif... OMIM:264350
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea, Splenomegaly OMIM:619849
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Leukocytosis, Decreased ... ORPHA:51890
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Increa... OMIM:181000
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina... ORPHA:188
Adiposis Dolorosa
Diarrhea, Xerostomia, Bruising susceptibility, Obesity, Constipation, Telangiectasia of the skin,... ORPHA:36397
Cutaneous Mastocytoma
Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Nausea, Telangiectas... ORPHA:79455
Coffin-Lowry Syndrome
Mitral regurgitation, Decreased body weight, High palate, Narrow palate, Rectal prolapse OMIM:303600
Castleman Disease
Restrictive cardiomyopathy, Nausea and vomiting, Intestinal obstruction, Anemia, Abnormality of t... ORPHA:160
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level... OMIM:613385
Lipodystrophy, Familial Partial, Type 1
Hypertension, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Hyper-Igd Syndrome
Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl... OMIM:260920
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Pheochromocytom... OMIM:162300
Addison Disease
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Celiac disease, Abdomin... ORPHA:85138
Omenn Syndrome
Pneumonia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane... OMIM:603554
Tempi Syndrome
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia ORPHA:284227
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Increased circulating antibody level, Inc... ORPHA:48435
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertension, Hypertriglyceridemia ORPHA:280356
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Dysphagia, Feeding difficulties, Nasogastric tube feeding ORPHA:485421
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasm... OMIM:620358
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... OMIM:307200
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An... OMIM:300755
Legionnaires Disease
Hypotension, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly, Infectious ence... ORPHA:549
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Vomiting, Failure to thrive, Polysplenia, Exocrine pancreatic insufficiency, Fa... OMIM:619418
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Mitochondrial Complex I Deficiency, Nuclear Type 29
Vomiting, Failure to thrive, Mitochondrial swelling, Hypertrophic cardiomyopathy, Palpitations, H... OMIM:618250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Diarrhea, Gastroesophageal reflux, Decreased circulating total... ORPHA:221139
Classic Galactosemia
Hepatic failure, Vomiting, Diarrhea, Cryptorchidism, Abnormal erythrocyte enzyme concentration or... ORPHA:79239
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Melas
Vomiting, Diarrhea, Intestinal pseudo-obstruction, Failure to thrive, Concentric hypertrophic car... ORPHA:550
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Recurrent pneumonia, Feeding difficultie... ORPHA:731
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Macrocytic anemia,... OMIM:615578
Angioedema, Hereditary, 1
Abdominal pain, Vomiting, Diarrhea, Intestinal edema OMIM:106100
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol le... ORPHA:276152
Congenital Generalized Lipodystrophy
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Polycystic ovaries, Hyp... ORPHA:528
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemi... OMIM:177735
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Raynaud phenomenon, Eryth... OMIM:613471
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Anal stenosis, Recurrent otitis media, Recurrent infection of the ... OMIM:251260
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Vomiting, Diarrhea, Failure to thrive, Hypertrophic cardiomyo... ORPHA:361
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... ORPHA:330001
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Congestive heart failure, Recurrent... OMIM:309900
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinop... ORPHA:39041
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea, Decreased circulating chenodeoxycholic acid concentration OMIM:619481
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper... OMIM:235400
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Recurrent otitis media, Cryptorchidism, Chronic constipation, Unilateral crypt... OMIM:617788
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... OMIM:240300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Def... OMIM:233690
Wolfram Syndrome 2
Peptic ulcer, Decreased circulating antibody level, Abnormal bleeding OMIM:604928
Chédiak-Higashi Syndrome
Gingival bleeding, Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia... ORPHA:167
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Hyperlipidemia, Abdominal distention, Hepatocellu... ORPHA:369
Congenital Myopathy 20
High palate, Chronic diarrhea, Failure to thrive OMIM:620310
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Vomiting, Diarrhea, Abnormal bleeding, Lymphop... ORPHA:454831
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Hepatosplenomegaly, Elevated circulating creati... ORPHA:79322
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Vomiting, Diarrhea, Gastroesophageal reflux, Elevated circulating creatinine concentration, Feedi... OMIM:223900
Hereditary Angioedema Type 1
Hypotension, Vomiting, Diarrhea, Intestinal edema, Nausea, Abnormal soft palate morphology, Abdom... ORPHA:100050
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia, Dysphagia ORPHA:412217
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Abnormal bleeding, Urinary bladder inflammation, ... ORPHA:556
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatosplenomegaly, Leukocytosis, R... OMIM:618278
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Malabs... ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Vomiting, Diarrhea, Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creat... OMIM:608836
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Diarrhea, Dysphagia, Splenomegaly OMIM:252930
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Failure to thrive, Sinus tachycardia, Congestive heart failure, Goiter, Palp... ORPHA:525731
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer ORPHA:2069
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hyperuricemia, Polycystic ov... ORPHA:79083
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... ORPHA:2241
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Diarrhea, Splenomegaly OMIM:602347
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop... ORPHA:3240
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal p... ORPHA:143
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Diarrhea, Dilated cardiomyopathy, Leukopenia, Thrombocytosis, Leukocytosis, Hyperamm... ORPHA:20
Beta-Ketothiolase Deficiency
Hypotension, Vomiting, Diarrhea, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight lo... ORPHA:134
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Osteoma, Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Adenomatous colonic polyposis, ... ORPHA:261584
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Pancreat... ORPHA:2348
Fanconi-Bickel Syndrome
Hepatic failure, Abdominal distention, Failure to thrive, Hypophosphatemia, Hypertriglyceridemia,... ORPHA:2088
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Constipation, Abdominal pain ORPHA:163746
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Pulmonic stenosis, Rectal f... OMIM:115470
Fabry Disease
Vomiting, Diarrhea, Tenesmus, Congestive heart failure, Transient ischemic attack, Nausea, Arrhyt... OMIM:301500
Abetalipoproteinemia
Hypoalbuminemia, Vomiting, Hypotriglyceridemia, Failure to thrive, Abnormal bleeding, Congestive ... ORPHA:14
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Failure to thrive, Recurrent otitis media, Tricuspid regurgita... OMIM:620233
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Irida Syndrome
Abnormal intestine morphology ORPHA:209981
Cholera
Hypovolemic shock, Hypotension, Vomiting, Diarrhea, Aspiration pneumonia, Abnormal blood ion conc... ORPHA:173
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:363400
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Hemophagocytosis, Failure to thrive, Malnutrition, Increased circulating ferr... OMIM:222700
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... ORPHA:480536
Prader-Willi Syndrome
Class III obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation... OMIM:176270
Caroli Disease
Cholelithiasis, Vomiting, Leukocytosis, Splenomegaly, Portal hypertension, Nausea, Abdominal rigi... ORPHA:53035
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Orthosta... ORPHA:66628
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Abnormal circulating selenium concentration, Dilated cardiomyopathy, Mal... ORPHA:79408
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Ungual fibroma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma... ORPHA:538
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Orthosta... ORPHA:179494
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Hyposerinemia, Vomiting, Gastroesophageal reflux, Failure to thrive, Esophagitis,... ORPHA:79351
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Right ventricular failure, Palpitations, Facial telangiectasia, H... ORPHA:100085
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Bifid uvula, Intractable diarrhea, Hepatic failure, Hypermethioninemia, Increase... OMIM:222470
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Hyponatremia, Constipation, Abdomin... ORPHA:79276
22Q11.2 Deletion Syndrome
Cryptorchidism, Feeding difficulties in infancy, Hypoparathyroidism, Anal atresia, Purpura, Bowel... ORPHA:567
Ethylmalonic Encephalopathy
Petechiae, Diarrhea, Failure to thrive ORPHA:51188
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... ORPHA:99880
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... OMIM:612562
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... ORPHA:499009
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated... OMIM:615688
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Nausea and vomiting, Episcleritis, Skin rash, Splenomegaly, Small vesse... ORPHA:36412
Colchicine Poisoning
Hypotension, Vomiting, Diarrhea, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Abn... ORPHA:31824
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Failure to thrive, Petechiae, Chronic diarrh... OMIM:602473
Aa Amyloidosis
Vomiting, Malnutrition, Malabsorption, Abdominal pain, Nausea, Chronic diarrhea ORPHA:85445
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Vomiting, Gastroesophageal reflux, Failure to thrive, Hypertrophic ... ORPHA:17
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Neuroblastoma, Hypertension associated with pheochromocytoma, Gastroi... OMIM:115310
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Pulmonic s... OMIM:617137
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... ORPHA:1199
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL choleste... ORPHA:98855
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent otitis media, Microcytic anemia, Leu... ORPHA:99843
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Telangiectasia, Keratocon... OMIM:601675
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Elevated stool chloride content, Hypok... OMIM:214700
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Diarrhea, Hyperphosphatemia ORPHA:94086
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula ORPHA:3016
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro... OMIM:612132
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... OMIM:500013
Infantile Systemic Hyalinosis
Failure to thrive, Malabsorption, Polycystic ovaries, Abnormality of the gastrointestinal tract, ... ORPHA:2176
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Osteomyelitis, Malabsorption, Nausea and vomi... ORPHA:565
Wolcott-Rallison Syndrome
Hypoalbuminemia, Acute hepatic failure, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hy... ORPHA:1667
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98863
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Weight loss, Anemia, Abdominal pain, Hypertension OMIM:256700
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Cryptorchidism, Hypertriglyceridemia OMIM:617575
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... OMIM:306400
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Slender buil... ORPHA:93932
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hypert... OMIM:618620
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia, Episodic ... OMIM:246450
19P13.13 Microdeletion Syndrome
Macroglossia, Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal... ORPHA:357001
Vipoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Nausea and v... ORPHA:97282
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Abnormal tongue morphology, Hypercholesterolemia, Hy... ORPHA:2457
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Increased circulating IgE level, Psoriasiform dermatitis, Mal... OMIM:615508
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Large for gestational age, Hypophosphatemic rickets, Increased body weight, A... ORPHA:263455
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting ORPHA:90035
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention... OMIM:619351
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Hyperuricemia, ... ORPHA:95409
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anorexia,... ORPHA:514
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr... ORPHA:263297
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Pancreatic cysts, Hypertension, Esophageal varix OMIM:263200
Acute Liver Failure
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Hypotension, Abnormal bleeding, Shock... ORPHA:90062
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries, Decreased HDL cholesterol concentration,... OMIM:604367
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration, Failure to thrive,... OMIM:619518
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Vomiting, Diarrhea, Abnormal EKG, Elevated circulating creatinine concentrat... ORPHA:230
Bardet-Biedl Syndrome
Inflammation of the large intestine, Cardiomyopathy, Decreased HDL cholesterol concentration, Dec... ORPHA:110
Liver Disease, Severe Congenital
Diarrhea, Recurrent otitis media, Hyperbilirubinemia, Abdominal distention, Hypoproteinemia, Pate... OMIM:619991
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Cardiomyopathy, Anorexia, Abnor... ORPHA:2131
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,... ORPHA:563
Nijmegen Breakage Syndrome
Recurrent pneumonia, Abnormality of chromosome stability, Anal stenosis, Acute leukemia, Autoimmu... ORPHA:647
Mucopolysaccharidosis, Type Iiib
Diarrhea, Splenomegaly OMIM:252920
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, D... ORPHA:650
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Vomiting, Diar... OMIM:610768
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Increased circulating cortiso... ORPHA:97287
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Abnormal rectum morpholog... ORPHA:2556
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea, Failure to thrive OMIM:560000
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Failure to thrive, Hypertension, Recurrent pancreatitis, Pulmonary arterial h... OMIM:606721
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Decreased activity... OMIM:256810
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Dilated cardiomyopathy, Failure to thrive, Malnutrition, Pyoderma, Constipat... ORPHA:79404
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Recurrent pneumonia, Bruising susceptibility, Congestive heart failu... OMIM:225400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Decreased testicular size, Splenomegaly, Decreased serum zinc, Poor ... OMIM:201100
Aapoaiv Amyloidosis
Atrial flutter, Paraproteinemia, Elevated circulating creatinine concentration, Hypertrophic card... ORPHA:439232
Cholestasis-Lymphedema Syndrome
Erysipelas, Malabsorption, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Mucopolysaccharidosis, Type Iiia
Diarrhea, Splenomegaly OMIM:252900
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Congestive h... ORPHA:2331
Listeriosis
Arteritis, Diarrhea, Abscess, Pustule, Abdominal pain, Endocarditis, Osteomyelitis, Peritonitis, ... ORPHA:533
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Decreased HDL cholesterol concentration, ... OMIM:203800
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... ORPHA:139402
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Prolonged bleeding time, Gastroesophageal reflux ORPHA:1901
Diamond-Blackfan Anemia
Malignant genitourinary tract tumor, Cleft soft palate, Acute myeloid leukemia, Adenocarcinoma of... ORPHA:124
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Acrodermatitis Enteropathica
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... ORPHA:37
Biotinidase Deficiency
Vomiting, Diarrhea, Skin rash, Splenomegaly, Hyperammonemia, Feeding difficulties in infancy, Seb... OMIM:253260
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation OMIM:608643
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Bruising susceptibility, Bleeding requiring red cell transfusion, Chronic diar... OMIM:619484
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:208900
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,... OMIM:213700
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... ORPHA:412
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Microtriplication 11Q24.1
Obesity, Hyperlipidemia, Cleft palate ORPHA:289522
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed... OMIM:618050
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Pancytope... ORPHA:99921
Glycerol Kinase Deficiency
Vomiting, Chronic pancreatitis, Cryptorchidism, Episodic vomiting, Hypertriglyceridemia, Nausea, ... OMIM:307030
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling ORPHA:397744
Rothmund-Thomson Syndrome Type 1
Vomiting, Diarrhea, Aplastic anemia, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221008
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Sple... ORPHA:280365
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,... OMIM:223370
Localized Scleroderma
Vasculitis, Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arrhythmia, R... ORPHA:90289
Fraser Syndrome 2
Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Abdominal distention, Anal atresia OMIM:617666
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Esophagitis, Decreased serum zinc, Feeding difficulties ORPHA:541423
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Abdominal pain, Constipation, Chronic hepatic failure, Abdominal distention, ... ORPHA:469
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Lymphoma, Otitis media, Gastrointestinal stroma tumor, Ana... ORPHA:1572
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Malnutrition, Nausea, Abdominal pain OMIM:229600
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Failure to thrive, Cryptorchidism, Chronic constipation, Feeding difficu... ORPHA:500055
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatic failure, Cholelithiasis, Abnormal bleeding, Decreased liver function, Abnormal circulatin... ORPHA:77293
Familial Hypoaldosteronism
Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Hypovolemia, Orthost... ORPHA:427
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia,... ORPHA:95455
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... OMIM:600740
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Palm... ORPHA:247353
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia of the skin, Cryptorchidism, Hypertriglyceridemia OMIM:615381
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Hypertensive crisis, Diarrhea, Abnormal tongue morphology, Ganglioneu... ORPHA:653
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Hyperlipidemia, Petechiae, Neu... ORPHA:79477
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Dilated cardiomyopathy, Pancytopenia, Skin rash, Episodic vomiting, Tachycardia OMIM:618321
Glycogen Storage Disease Ia
Abnormal bleeding, Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Protuberant ab... OMIM:232200
Rothmund-Thomson Syndrome Type 2
Vomiting, Diarrhea, Aplastic anemia, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221016
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocri... OMIM:618268
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis OMIM:608654
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglycer... ORPHA:209902
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Dysphagia, D... ORPHA:699
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Li-Fraumeni Syndrome
Stomach cancer, Neoplasm of the pancreas, Neoplasm of the rectum, Acute myeloid leukemia, Testicu... ORPHA:524
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Vomiting, Gastroesophageal reflux, Failure to thrive, Decreased response to ... ORPHA:96182
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure OMIM:619431
Trichothiodystrophy 5, Nonphotosensitive
Panhypopituitarism, Decreased testicular size, Chronic diarrhea, Chronic decreased circulating IgG1 OMIM:300953
Menke-Hennekam Syndrome 2
Duodenal ulcer, Chronic constipation OMIM:618333
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Aborted sudden cardiac death, Vomiting, Dilated cardiomyopathy, Hepatitis, Recurrent... OMIM:614921
Cockayne Syndrome Type 1
Diarrhea, Failure to thrive, Cryptorchidism, Increased blood urea nitrogen, Anemia, Conjunctiviti... ORPHA:90321
Classical-Like Ehlers-Danlos Syndrome Type 2
Periodontitis, Bruising susceptibility, Hypertriglyceridemia, Cryptorchidism, Keratoconjunctiviti... ORPHA:536532
Xp21 Deletion Syndrome
Recurrent otitis media, Elevated circulating creatine kinase concentration, Nausea and vomiting, ... ORPHA:261476
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Congestive heart failure, Ele... OMIM:617253
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Pancreatitis, Hypertriglyceridemia ORPHA:435651
Aregenerative Anemia
Abnormal circulating interleukin concentration, Abnormal bleeding, Bruising susceptibility, Pancy... ORPHA:101096
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Hyperuricemia, Hyperalaninemia, Reye syndrome-li... ORPHA:348
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Hyperlipidemia, Failure to thrive ORPHA:2089
Imerslund-Grasbeck Syndrome 2
Anemia, Diarrhea, Megaloblastic anemia OMIM:618882
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Microphthalmia, Syndromic 1
High, narrow palate, Recurrent otitis media, Cryptorchidism, Aganglionic megacolon, Anal atresia,... OMIM:309800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Submucous cleft hard palate, High palate, Chronic diarrhea, Pyloric stenosis ORPHA:457279
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy OMIM:602541
Mucopolysaccharidosis, Type Iiid
Diarrhea, Asymmetric septal hypertrophy, Recurrent otitis media, Splenomegaly, Mitral regurgitati... OMIM:252940
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal dermatitis, Recurre... ORPHA:294023
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbilirubinemia, Bilateral cleft palate,... OMIM:301068
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Japanese Encephalitis
Neutrophilia, Vomiting, Diarrhea, Infectious encephalitis, Increased circulating antibody level, ... ORPHA:79139
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Aspiration pneumonia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypoca... ORPHA:94093
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent... OMIM:617827
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Cryptorchidism, Chronic constipation, Decreased body weight, Th... OMIM:619005
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo... ORPHA:79086
Amyloidosis, Hereditary Systemic 1
Diarrhea, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Constipation, Epi... OMIM:105210
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... ORPHA:85435
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulating cortisol level, Ly... ORPHA:99889
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... ORPHA:99226
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Recurrent oti... ORPHA:881
Kikuchi-Fujimoto Disease
Vasculitis, Leukopenia, Malar rash, Enlargement of parotid gland, Skin rash, Splenomegaly, Pustul... ORPHA:50918
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:3342
Neuroblastoma
Abnormal bleeding, Increased circulating ferritin concentration, Weight loss, Thrombocytopenia, A... ORPHA:635
Glycogen Storage Disease Ixc
Splenomegaly, Bile duct proliferation, Hypertriglyceridemia OMIM:613027
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Esophagitis, Cryptorchidism, Hi... ORPHA:2896
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Hyperbilirub... ORPHA:69665
Deeah Syndrome
Narrow palate, Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulatio... OMIM:619004
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Esophagitis, Cryptorchidism, Telangiectasia, Constipation, Dysphagia, Patent ductus ar... ORPHA:495818
Rothmund-Thomson Syndrome
Vomiting, Diarrhea, Aplastic anemia, Malar rash, Skin rash, Anemia, Telangiectasia of the skin, N... ORPHA:2909
Gitelman Syndrome
Diarrhea, Nausea and vomiting, Parathyroid adenoma, Tubulointerstitial nephritis, Ventricular fib... ORPHA:358
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Duodenal ulcer OMIM:217090
Lipodystrophy, Familial Partial, Type 5
Hypertension, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Nausea and vomiting, Episodic abdominal pa... ORPHA:405
Sandhoff Disease
Hepatosplenomegaly, Episodic abdominal pain, Orthostatic hypotension, Macroglossia, Chronic diarrhea OMIM:268800
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410
Alagille Syndrome 1
Hepatic failure, Failure to thrive, Exocrine pancreatic insufficiency, Hypercholesterolemia, Hype... OMIM:118450
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Abnormal granulocyte morphology, Cardiomyopat... ORPHA:98907
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Fabry Disease
Nausea and vomiting, Mitral regurgitation, Arrhythmia, Achalasia, Anorexia, Abdominal pain, Hyper... ORPHA:324
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Failure to thrive, Decreased testicular size, Perineal fistula,... ORPHA:2753
Serotonin Syndrome
Hepatic failure, Diarrhea, Hypotension, Nausea, Tachycardia, Hypertension ORPHA:43116
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Subcutaneous hemorrhage, Intestinal polyposis, Intracranial ... ORPHA:109
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Capillary hema... ORPHA:508488
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Gastrointestinal telangiectasia, Intestinal bleeding, Oral leukoplakia, Retinal telangiectasia OMIM:612199
Glycogen Storage Disease Iii
Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:232400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Rectovestibular fistula, Gastroesophageal reflux, Anal stenosis, Feeding difficulties in infancy,... ORPHA:280633
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyo... ORPHA:228308
Diamond-Blackfan Anemia 21
Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea OMIM:620072
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Steinert Myotonic Dystrophy
Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infan... ORPHA:273
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Abdomina... ORPHA:31150
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Alg9-Cdg
Bifid uvula, Vomiting, Diarrhea, Gastroesophageal reflux, Tricuspid regurgitation, Villous atroph... ORPHA:79328
Ogden Syndrome
Diarrhea, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Cryptorchidism, Prematu... OMIM:300855
Mowat-Wilson Syndrome
Aortic valve stenosis, Recurrent otitis media, Cryptorchidism, Decreased body weight, Dysphagia, ... ORPHA:2152
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia ORPHA:79085
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Thyroid hyperplasia, Goiter, Weight loss, Small for gestational age ORPHA:424
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Obesity, Hyperlipidemia, Mitral regurgitation, Cryptorchidism, Arrhythmia, ... ORPHA:254346
Farber Disease
Hepatic failure, Failure to thrive, Hepatosplenomegaly, Arthritis, Thrombocytopenia, Anemia, Chro... ORPHA:333
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti... ORPHA:319552
Sacral Defect With Anterior Meningocele
Constipation, Rectal abscess OMIM:600145
Phoar2-Enteropathy Syndrome
Acne, Seborrheic dermatitis, Secretory diarrhea, Hypoalbuminemia OMIM:614441
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Failure to thrive, Hypokalemia, Constipation, Hemolytic anemia, Poor appetite ORPHA:18
Arteriosclerosis, Severe Juvenile
Anemia, Myocardial infarction, Hypertension, Gastric ulcer OMIM:208060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties, Elevated circulating creatine kinase concentration OMIM:615356
Leptospirosis
Uveitis, Diarrhea, Hypotension, Hepatitis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Naus... ORPHA:509
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypo... OMIM:601678
Scorpion Envenomation
Vomiting, Diarrhea, Prominent U wave, Cardiogenic shock, Congestive heart failure, Bundle branch ... ORPHA:466677
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Decreased HDL... OMIM:151660
Hurler Syndrome
Cardiomyopathy, Splenomegaly, Angina pectoris, Macroglossia, Rhinitis, Chronic diarrhea, Hyperten... ORPHA:93473
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Elevated circulating creatine kinase concentr... OMIM:610717
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:99819
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Hypertriglyceridemia, Dys... OMIM:264090
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Small for gestational age, Failure to thrive, Pancreatic hypoplasia,... ORPHA:2255
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma... ORPHA:636
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopen... ORPHA:2072
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Mitral regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c, Hig... OMIM:619127
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Chikungunya
Gingival bleeding, Epistaxis, Diarrhea, Vomiting, Abnormal bleeding, Skin rash, Petechiae, Infect... ORPHA:324625
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Abnormal tongue morphol... ORPHA:158668
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas... ORPHA:157
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Gastroesophageal reflux, Anal atresia, Chronic diarrhea ORPHA:3164
Zttk Syndrome
Aortic regurgitation, Bifid uvula, Failure to thrive, Absent gallbladder, Submucous cleft hard pa... OMIM:617140
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... OMIM:619472
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Dermatomyositis
Vasculitis, Heliotrope rash, Lymphoma, Sinus tachycardia, Neoplasm, Skin rash, Lung adenocarcinom... ORPHA:221
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, ... OMIM:600001
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure, Abnormal circulating creatine kinase concentration, Chr... ORPHA:98908
Mucopolysaccharidosis Type 3
Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Malabso... ORPHA:581
Atypical Werner Syndrome
Aortic valve stenosis, Failure to thrive, Congestive heart failure, Decreased body weight, Neopla... ORPHA:79474
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Familial Multiple Lipomatosis
Functional intestinal obstruction, Hyperlipidemia ORPHA:199276
Occipital Horn Syndrome
Bruising susceptibility, Decreased circulating ceruloplasmin concentration, Hiatus hernia, Orthos... OMIM:304150
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hypertriglyceridemia, Elevated hem... OMIM:269700
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldo... OMIM:241200
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypercholesterolemia, Hype... ORPHA:363618
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Bruising susceptibility, Hyperaldosteron... ORPHA:189427
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Failure to thrive, Decreased response to growth hor... OMIM:615873
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Hypercholesterole... ORPHA:86816
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Bruising susceptibility, Gastroparesis, ... ORPHA:198
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Splenomegaly, Polycystic ovaries, Hypertriglyceridemia, Acute pancreatitis OMIM:608594
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Alström Syndrome
Testicular fibrosis, Hepatosplenomegaly, Polycystic ovaries, Glomerulonephritis, Oligozoospermia,... ORPHA:64
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Carney Complex
Euthyroid multinodular goiter, Increased circulating cortisol level, Increased circulating prolac... ORPHA:1359
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Recurrent otitis media, Slender... ORPHA:3455
African Trypanosomiasis
Myelitis, Vomiting, Diarrhea, Keratitis, Third degree atrioventricular block, Congestive heart fa... ORPHA:3385
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Hypertrophic cardiomyopath... ORPHA:97685
Aspartylglucosaminuria
Diarrhea, Mitral regurgitation, Vacuolated lymphocytes, Neutropenia, Macroglossia, Macroorchidism... OMIM:208400
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Duodenal ulcer, Cervicitis ORPHA:722
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Cardiomyopathy, Palpitations, Hyperlipidemia, Splenomegaly,... ORPHA:565612
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Failure to thrive, Malabsorption, Hypokalemia, Hypovolemia, Bicarbonaturia ORPHA:47159
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperlipidemia OMIM:608612
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive in infan... ORPHA:500150
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Hepatosplenomegaly, Heart murmur, Splenomegaly, Arrhythmia, Arthritis, Macrogloss... ORPHA:217085
Penile Agenesis
Cryptorchidism, Tracheoesophageal fistula, Anal atresia, Rectal fistula, Anorectal anomaly ORPHA:49
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Hepatosplenomegaly, Heart murmur, Splenomegaly, Arrhythmia, Arthritis, Macrogloss... ORPHA:217093
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Patent ductus arteriosus, Submucous ... ORPHA:1662
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Cardiomyopathy, Splenomegaly, Arrhythmia, Macroglossia, Chronic diarrhea, Hyp... ORPHA:580
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, High palate, Hyperlipidemia ORPHA:90153
Coffin-Siris Syndrome 1
Intestinal malrotation, Cryptorchidism, Feeding difficulties in infancy, Patent ductus arteriosus... OMIM:135900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Abdominal... ORPHA:567546
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Mitochondrial respiratory chain defects ORPHA:909
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, High palate, Hypercholesterolemia, Calcinosis OMIM:248370
Nmda Receptor Encephalitis
Testicular teratoma, Vomiting, Diarrhea, Ovarian teratoma, Orthostatic hypotension ORPHA:217253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Aromatase Deficiency
Obesity, Eunuchoid habitus, Hyperlipidemia, Cryptorchidism, Enlarged polycystic ovaries, Macroorc... ORPHA:91
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased response to growth hormone stimulation test, Decreased testicular size... ORPHA:3464
Woodhouse-Sakati Syndrome
Decreased testicular size, Hyperlipidemia, Abnormal T-wave OMIM:241080
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... 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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