Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
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 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:71529 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
OMIM:617885 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia |
OMIM:610883 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A... |
ORPHA:399 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:66628 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia |
ORPHA:179494 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276556 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276575 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:324575 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... |
OMIM:616050 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia |
ORPHA:71526 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... |
ORPHA:810 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Dubowitz Syndrome |
|
Hyperactivity, Hypocholesterolemia |
OMIM:223370 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... |
ORPHA:293987 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Polyphagia |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c |
OMIM:269700 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177901 |
Sepsis In Premature Infants |
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Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Magel2-Related Prader-Willi-Like Syndrome |
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Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia |
ORPHA:398069 |
Chromosome Xq26.3 Duplication Syndrome |
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Polyphagia |
OMIM:300942 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Aggressive behavior, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... |
OMIM:270400 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
Sim1-Related Prader-Willi-Like Syndrome |
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Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... |
ORPHA:3260 |
Sweet Syndrome |
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Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Thymoma |
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Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Plague |
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Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Gangliocytoma |
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Polyphagia |
ORPHA:251937 |
Adnp Syndrome |
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Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... |
ORPHA:404448 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... |
ORPHA:79259 |
Cocaine Intoxication |
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Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Prader-Willi Syndrome |
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Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:176270 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen... |
ORPHA:84064 |
Weaver Syndrome |
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Polyphagia |
OMIM:277590 |
Autoimmune Lymphoproliferative Syndrome |
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Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures |
ORPHA:79443 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... |
OMIM:615873 |
Primary Sclerosing Cholangitis |
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Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
Prader-Willi Syndrome |
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Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Glycogen Storage Disease Ib |
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Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
Wiskott-Aldrich Syndrome |
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Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... |
OMIM:301000 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Glycogen Storage Disease Ic |
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Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
X-Linked Acrogigantism |
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Polyphagia |
ORPHA:300373 |
Fumarase Deficiency |
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Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
Frontometaphyseal Dysplasia 2 |
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Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Craniopharyngioma |
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Polyphagia |
ORPHA:54595 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia |
ORPHA:1606 |
Sarcoidosis, Susceptibility To, 1 |
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Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... |
OMIM:181000 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99413 |
Turner Syndrome |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:881 |
Mosaic Monosomy X |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99228 |
Monosomy X |
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Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99226 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Alström Syndrome |
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Hyperlipidemia, Hypertriglyceridemia, Polyphagia |
ORPHA:64 |