Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency 70 |
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Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Inflammatory Bowel Disease 29 |
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Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency 57 With Autoinflammation |
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Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased... |
OMIM:618108 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... |
OMIM:619281 |
Diarrhea 8, Secretory Sodium, Congenital |
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Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... |
OMIM:608809 |
Inflammatory Bowel Disease 21 |
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Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Cutaneous Photosensitivity And Colitis, Lethal |
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Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Ficolin 3 Deficiency |
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Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
5-Oxoprolinase Deficiency |
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Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
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Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 13 |
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Inflammation of the large intestine |
OMIM:612244 |
Bare Lymphocyte Syndrome, Type Ii |
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Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr... |
OMIM:209920 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Acute Lung Injury |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Hirschsprung Disease, Susceptibility To, 1 |
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Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Recurrent sinusitis, Colitis, Decreased circulating antibody level |
OMIM:613101 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,... |
OMIM:301220 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Abdominal pain, Sk... |
OMIM:301074 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Obesity, Colitis |
ORPHA:88643 |
Visceral Myopathy 2 |
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Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Colitis, Decreased circulating antibody level, Esophageal stenosis |
OMIM:615190 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... |
ORPHA:411696 |
Inflammatory Bowel Disease 11 |
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Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Secondary Short Bowel Syndrome |
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Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
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Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Macrophage Activation Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Epidermolysis Bullosa Acquisita |
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Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Immunodeficiency 58 |
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Failure to thrive, Bronchiectasis, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, ... |
OMIM:618131 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Failure to thrive, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Rec... |
OMIM:614700 |
Pseudomyxoma Peritonei |
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Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... |
ORPHA:26790 |
Pyoderma Gangrenosum |
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Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Trichohepatoenteric Syndrome 2 |
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Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... |
OMIM:614602 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Autoimmune Hepatitis |
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Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ... |
ORPHA:2137 |
Immunodeficiency 97 With Autoinflammation |
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Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... |
OMIM:619802 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... |
ORPHA:37042 |
Autoinflammation With Infantile Enterocolitis |
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Failure to thrive, Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, ... |
OMIM:616050 |
Linear Iga Dermatosis |
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Inflammation of the large intestine |
ORPHA:46488 |
Iga Pemphigus |
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Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... |
ORPHA:555905 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... |
ORPHA:542323 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
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High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting |
OMIM:616809 |
Infection-Related Hemolytic Uremic Syndrome |
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Abdominal cramps, Acute colitis, Increased circulating interleukin 6 concentration, Bloody diarrh... |
ORPHA:544482 |
Sepsis In Premature Infants |
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Increased circulating interleukin 6 concentration, Decreased liver function, Decreased body weigh... |
ORPHA:90051 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Thymoma |
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Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Decreased circulating ant... |
ORPHA:99867 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Failure to thrive, Inflammation of the lar... |
OMIM:614576 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Failure to thrive, Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastr... |
ORPHA:911 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Failure to thrive, Bloody diarrhea, Eosinophilic infiltration of the esophagus, Pancolitis, Incre... |
OMIM:618213 |
Immunodeficiency 82 With Systemic Inflammation |
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Gastritis, Diarrhea, Vomiting, Pneumonia, Weight loss, Colitis, Osteomyelitis, Decreased circulat... |
OMIM:619381 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal ca... |
ORPHA:391487 |
Shigellosis |
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Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi... |
ORPHA:810 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli... |
ORPHA:3261 |
Amoebiasis Due To Entamoeba Histolytica |
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Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... |
ORPHA:67 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Co... |
OMIM:618999 |
Cyclic Neutropenia |
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Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Sclerosing chola... |
OMIM:619652 |
Esophagitis, Eosinophilic, 1 |
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Dysphagia, Failure to thrive, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Dysphagia, Failure to thrive, Vomiting, Esophagitis |
OMIM:613412 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... |
OMIM:618935 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:562639 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Syndromic Diarrhea |
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Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Small f... |
ORPHA:84064 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:203300 |
Sapho Syndrome |
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Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... |
ORPHA:793 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... |
ORPHA:90038 |
Parenteral Nutrition-Associated Cholestasis |
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Abdominal pain, Hepatic failure, Small for gestational age, Villous atrophy, Abnormality of cytok... |
ORPHA:567983 |
X-Linked Lymphoproliferative Disease |
|
Decreased liver function, Decreased circulating IgA level, Colitis, Decreased circulating IgG lev... |
ORPHA:2442 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... |
ORPHA:309031 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreatitis, Abdominal p... |
ORPHA:171 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Pancreatitis, Recurrent pancreatitis |
OMIM:615947 |
Spondyloarthropathy, Susceptibility To, 1 |
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Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ... |
OMIM:301000 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion |
ORPHA:101096 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Episodic vomiting, Gastroesophageal reflux |
OMIM:201475 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Inflammation of the large intestine |
OMIM:617718 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Abdominal pain, Eczema, Lymphadenitis, Inflammation of the large intestine, He... |
OMIM:615895 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Malabsorption, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Ab... |
ORPHA:3260 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... |
ORPHA:2908 |
Reactive Arthritis |
|
Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Inflammation of the large intestine, Pericardit... |
ORPHA:29207 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Intestinal atresia, Inflammation of the large intestine, Bronchiectasis, Dysphagia, Absent uvula,... |
OMIM:619708 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin... |
OMIM:181000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Periodontitis, Pancreatitis, Enterocolitis, Hepatocellular carcinoma, Diarrhea... |
ORPHA:79259 |
Visceral Myopathy 1 |
|
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Dysphagia, ... |
OMIM:155310 |
Cocaine Intoxication |
|
Bloody diarrhea, Colitis, Abdominal pain, Vomiting, Tubulointerstitial nephritis, Nausea, Glomeru... |
ORPHA:90068 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Plague |
|
Bloody diarrhea, Enterocolitis, Hematemesis, Abdominal pain, Anorexia, Skin rash, Lymphadenitis, ... |
ORPHA:707 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Protuberant ab... |
OMIM:232220 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Eczema, Chronic otitis media, Infla... |
ORPHA:906 |
Immunodeficiency 87 And Autoimmunity |
|
Increased fecal calprotectin level, Cleft palate, Small for gestational age, Necrotizing enteroco... |
OMIM:619573 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Gastroesophageal reflux, Cleft palate, Bifid uvula, Pyloric stenosis, Feeding diffic... |
OMIM:617137 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Intestinal malrotation, Abnormality of the gastrointestinal tract, Hypoperi... |
ORPHA:2241 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity, Osteomyelitis, Inflammation of the large intestine |
ORPHA:70591 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon, Hepatic failure |
OMIM:619431 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, High, narrow palate, Inflammation of the large intestine, Failure to thrive in infan... |
ORPHA:99413 |
Turner Syndrome |
|
High palate, High, narrow palate, Inflammation of the large intestine, Failure to thrive in infan... |
ORPHA:881 |
Mosaic Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Failure to thrive in infan... |
ORPHA:99228 |
Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Failure to thrive in infan... |
ORPHA:99226 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Constipation, Enterocolitis, Cleft palate, Dependency on intravenous nutri... |
ORPHA:2152 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |