| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea |
OMIM:619398 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased circulating fe... |
OMIM:300635 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis |
OMIM:617006 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... |
OMIM:617638 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
| Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di... |
OMIM:615767 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... |
OMIM:619281 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... |
OMIM:604416 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... |
OMIM:613101 |
| Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... |
OMIM:618394 |
| Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, B-cell lymphoma, Recurrent pneumonia |
OMIM:619164 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... |
OMIM:613960 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Feeding diffic... |
OMIM:616050 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... |
ORPHA:436159 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... |
OMIM:614878 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
| Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... |
ORPHA:48104 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Chronic diarrhea, Increas... |
ORPHA:98813 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Decreased LDL choles... |
OMIM:615947 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... |
OMIM:614602 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Decreased circulating antibody level |
OMIM:615190 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Recurrent skin infections, Eczema, Abdominal pain, Increased circulating fe... |
OMIM:619802 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... |
ORPHA:37042 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
| Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Decreased circulatin... |
ORPHA:99867 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... |
OMIM:301220 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Lymphoproliferative disorder, Pneumonia, Skin rash, Lymphade... |
ORPHA:911 |
| Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... |
OMIM:619381 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... |
OMIM:201475 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D... |
ORPHA:3261 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... |
ORPHA:90038 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Malabsorption, Abd... |
ORPHA:793 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Chronic diarrhea, Decreased specific anti-pol... |
OMIM:614576 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... |
OMIM:617718 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... |
OMIM:615895 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth ho... |
OMIM:131100 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Ecz... |
ORPHA:391487 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel... |
ORPHA:2908 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Abnormality of ir... |
ORPHA:84064 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Enterocolitis, Hepatocellular adenoma, Ulcerative... |
ORPHA:79259 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
| Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Hyperlipidemia, Gout, Inflammation of the large intestine, Hyperuricemia, Pr... |
OMIM:232220 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure |
ORPHA:331 |
| Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... |
ORPHA:90068 |
| Wiskott-Aldrich Syndrome |
|
Lymphoproliferative disorder, Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Chr... |
OMIM:301000 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia, Malabsorption, Feeding difficu... |
ORPHA:3260 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intestine, Hype... |
OMIM:232240 |
| Immunodeficiency 87 And Autoimmunity |
|
Villous atrophy, Hypertriglyceridemia, Atrophic gastritis, Necrotizing enterocolitis, Elevated ci... |
OMIM:619573 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr... |
ORPHA:276152 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Lymphoma, Chronic leukemia, Acute le... |
ORPHA:906 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Inflammation of the large i... |
ORPHA:70591 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Cutaneous leiomyoma, High palate, Hyperbilirubinemia, Hepatic failure |
OMIM:606812 |
| Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... |
ORPHA:707 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, Inflammati... |
OMIM:181000 |
| Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colit... |
OMIM:617137 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99413 |
| Turner Syndrome |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99228 |
| Monosomy X |
|
Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increased circulating gonadotropin le... |
ORPHA:99226 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
