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Gene: Krt8 MGI:96705

Gene Summary

Name:

keratin 8

Synonyms:

Card2, Krt-2.8, K8, cytokeratin 8, EndoA, Krt2-8, cytokeratin8, cytokeratin-8

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
improved glucose tolerance	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.37×10^-05
increased prepulse inhibition	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.71×10^-05
decreased exploration in new environment	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.64×10^-05
preweaning lethality, complete penetrance	Krt8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased neutrophil cell number	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.38×10^-05
increased respiratory quotient	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.27×10^-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel A FCS file(s)

1 Images

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Immunophenotyping

Panel B FCS file(s)

1 Images

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Human diseases caused by Krt8 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.

Human diseases associated with Krt8 (0 diseases)
Human diseases predicted to be associated with Krt8 (1034 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Krt8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Solitary Rectal Ulcer Syndrome	Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Anemia, S...	ORPHA:209964
Immunodeficiency 104	Gastroesophageal reflux, Diarrhea, T lymphocytopenia, Eczema, Recurrent otitis media, Chronic muc...	OMIM:608971
Lactose Intolerance, Adult Type	Flatulence, Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lact...	OMIM:223100
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Abdominal pain, Lymphadenopathy, Intestinal bleedi...	ORPHA:424019
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, ...	OMIM:614480
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating alanine aminotransferase concentration, Vomiting, Diarrhea, Elevated circula...	OMIM:605911
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Stomach cancer, Anemia, Vomiting, Enlarged polycystic ovaries, Abnorma...	ORPHA:2869
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega...	OMIM:619350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Poor suck, Weight loss, Abnormal large intestine morphology, Nausea and ...	ORPHA:2198
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal circulating enzyme concentration or a...	ORPHA:103909
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocyt...	OMIM:278000
Coproporphyria, Hereditary	Vomiting, Diarrhea, Jaundice, Increased fecal coproporphyrin 3, Abdominal pain, Hypertension, Tac...	OMIM:121300
Carcinoid Syndrome	Episodic abdominal pain, Facial telangiectasia, Heart murmur, Nausea and vomiting, Hepatic necros...	ORPHA:100093
Immunodeficiency 48	Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis...	OMIM:269840
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Anemia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gas...	OMIM:174900
Blue Rubber Bleb Nevus	Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,...	OMIM:112200
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra...	ORPHA:79301
African Iron Overload	Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Congestive heart failure, Hepatic bridging...	ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve...	OMIM:615395
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Abdominal pain, Portal vein thrombosis, Hepatomegaly	ORPHA:33402
Cystic Fibrosis	Meconium ileus, Cirrhosis, Biliary cirrhosis, Diarrhea, Bronchiectasis, Chronic sinusitis, Steato...	OMIM:219700
Mantle Cell Lymphoma	Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:52416
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Diarrhea, Malabsorption, Jaundice, Elevated hepatic transaminase, Portal inflammation,...	OMIM:602347
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Diarrhea, Nausea and vomiting, Jaundice, Hepatomegaly, Esophageal var...	ORPHA:75234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Diarrhea, Fat malabsorption, Hepatocellular carcinoma, Intrahep...	OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea...	OMIM:613812
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Diarrhea, Intussusception, Ab...	ORPHA:90038
Hemochromatosis, Neonatal	Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Abnormal bleeding, Cholest...	OMIM:231100
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,...	OMIM:607765
Peutz-Jeghers Syndrome	Bloody diarrhea, Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple ...	OMIM:175200
Immunodeficiency 40	Elevated circulating alanine aminotransferase concentration, Rectal fistula, Intermittent diarrhe...	OMIM:616433
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho...	OMIM:235555
Pelvic Organ Prolapse, Susceptibility To	Bowel incontinence, Rectal prolapse	OMIM:176780
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Abdominal pain, Lymphadenopathy, Intestinal bleedi...	ORPHA:424016
Pfapa Syndrome	Weight loss, Nausea and vomiting, Malabsorption, Arthritis, Abdominal pain, Lymphadenopathy, Hepa...	ORPHA:42642
Sucrase-Isomaltase Deficiency, Congenital	Malabsorption, Abdominal pain, Diarrhea, Decreased mucosal sucrase-isomaltase activity	OMIM:222900
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Intractable diarrhea, Failure to thrive, C...	OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome	Vomiting, Diarrhea, Feeding difficulties in infancy, Failure to thrive, Abnormal intestine morpho...	OMIM:606528
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondri...	OMIM:251880
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cirrhosis, Chronic diarrhea, Weight loss, Nausea and vomiting, Jaundice, Abdomina...	ORPHA:65682
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abnormal circulating enzyme concentrat...	ORPHA:103907
Hepatocellular Carcinoma	Hypotension, Diarrhea, Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Abnormal re...	ORPHA:88673
5-Oxoprolinase Deficiency	Vomiting, Enterocolitis, Diarrhea, Abdominal pain, Reduced 5-oxoprolinase level	OMIM:260005
Immunodeficiency 69	Anemia, Diarrhea, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis,...	OMIM:618963
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Anemia, Diarrhea, High, narrow palate, Intussusception, Abdominal pain,...	ORPHA:79076
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Mpi-Cdg	Hepatic fibrosis, Vomiting, Diarrhea, Abnormal circulating enzyme concentration or activity, Fail...	ORPHA:79319
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ...	ORPHA:3032
Ganglioneuroma	Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio...	ORPHA:251992
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Cirrhosis, Vomiting, Anemia, Diarrhea, Weight loss, Small intestinal dys...	ORPHA:298
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic steatosis, Hyp...	OMIM:231530
Trichohepatoenteric Syndrome 2	Cirrhosis, Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational ag...	OMIM:614602
Hepatoportal Sclerosis	Elevated hepatic transaminase, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, Nodular ...	ORPHA:64743
Enteric Anendocrinosis	Vomiting, Diarrhea, Malabsorption, Cholestatic liver disease, Portal hypertension	ORPHA:83620
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Diarrhea, Hepatocellular carci...	OMIM:256810
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial i...	OMIM:615703
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea...	OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Epistaxis, Failure to thrive, Hepatomegaly, Cho...	OMIM:211600
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, High palate, Diarrhea, Weight loss, Projectile vomiting, Abdom...	OMIM:620045
Cap Polyposis	Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten...	ORPHA:160148
Chylomicron Retention Disease	Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Abdominal dist...	ORPHA:71
Alpha-Heavy Chain Disease	Anemia, Malabsorption, Premature ovarian insufficiency, Abdominal pain, Lymphadenopathy, Hepatome...	ORPHA:100025
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Malabsorption, Ascites, Jaundice, Esophageal varix, Elevated hepatic tran...	ORPHA:131
Diarrhea 9	Failure to thrive, Diarrhea, Villous atrophy	OMIM:618168
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Hepatic necrosis, Feeding difficulties in infancy, Elevated hepatic transamin...	ORPHA:71212
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Diarrhea, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegal...	ORPHA:370
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia	OMIM:619398
Secondary Short Bowel Syndrome	Vomiting, Enterocolitis, Diarrhea, Weight loss, Villous atrophy, Small intestinal dysmotility, Ag...	ORPHA:95427
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Inflammatory Bowel Disease 11	Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia	OMIM:191390
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Feeding difficulties in infancy, Lef...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Pancytopenia, Hepatic steatosis, Failure to thrive, Hypergonadotropic ...	OMIM:617872
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Failure to thrive, Protein-losing enteropathy	OMIM:615863
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran...	ORPHA:79303
Cholestasis-Lymphedema Syndrome	Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestat...	OMIM:214900
Wilson Disease	Cirrhosis, Anemia, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Ab...	ORPHA:905
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function	OMIM:617093
Aggressive Systemic Mastocytosis	Hypotension, Diarrhea, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Weight los...	ORPHA:98850
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Hirschsprung Disease	Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,...	ORPHA:388
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma,...	ORPHA:264580
Eosinophilic Gastroenteritis	Anemia, Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption...	ORPHA:2070
Reticular Dysgenesis	Leukopenia, Anemia, Diarrhea, Weight loss, Malabsorption, Aplasia/Hypoplasia of the thymus, Skin ...	ORPHA:33355
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,...	OMIM:619164
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Hepatic failure, Hepatic fibrosis, Cirrhosis, Diarrhea, Villous atrophy, Vomiti...	OMIM:602579
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ...	ORPHA:2494
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Recurrent aphthous stomatitis, Diarrhea, Weight loss, Abdominal pain, Ulcerative...	OMIM:266600
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Elevated circulating alkaline phosphat...	OMIM:613489
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Failure to thrive in infancy, Splenomegaly, Hepatomegaly	OMIM:619175
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated hepatic transaminase	OMIM:618400
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention	OMIM:616868
Isolated Agammaglobulinemia	Anemia, Diarrhea, Malabsorption, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnor...	ORPHA:229717
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st...	OMIM:301045
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Villous atrophy, Small for ges...	ORPHA:567983
Cronkhite-Canada Syndrome	Stomach cancer, Anemia, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cach...	ORPHA:2930
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Hepatic steatosis, Hypertrophic cardiomyopathy, Feeding difficulties, Cardiomyop...	OMIM:615119
Restrictive Dermopathy 2	Gastroesophageal reflux, Feeding difficulties, Rectal prolapse	OMIM:619793
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated hepatic tran...	OMIM:616829
Congenital Tufting Enteropathy	Elevated fecal osmolality, Vomiting, Chronic diarrhea, Abnormal large intestinal mucosa morpholog...	ORPHA:92050
Autoinflammatory-Pancytopenia Syndrome	Hepatic fibrosis, Chronic diarrhea, Chilblains, Membranoproliferative glomerulonephritis, Pancyto...	OMIM:619858
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Immunodeficiency 27A	Anemia, Diarrhea, Weight loss, Hepatosplenomegaly, Anorexia, Lymphadenopathy, Increased inflammat...	OMIM:209950
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga...	OMIM:619079
American Trypanosomiasis	Achalasia, Diarrhea, Aganglionic megacolon, Abdominal pain, Skin rash, Congestive heart failure, ...	ORPHA:3386
Radiation Proctitis	Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Rectal absce...	ORPHA:70475
Galactosemia Iii	Vomiting, Decreased beta-galactosidase activity, Jaundice, Failure to thrive, Hepatomegaly, Splen...	OMIM:230350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Au...	OMIM:616100
Glycogen Storage Disease Ixb	Diarrhea, Increased hepatic glycogen content, Hepatomegaly, Increased muscle glycogen content, Sp...	OMIM:261750
Cystic Fibrosis	Meconium ileus, Gastroesophageal reflux, Cirrhosis, Abnormality of the liver, Bronchiectasis, Mal...	ORPHA:586
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Feeding difficulties i...	OMIM:616050
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat...	OMIM:614582
Cog7-Cdg	Diarrhea, Small for gestational age, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly,...	ORPHA:79333
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Typhoid	Diarrhea, Cardiac arrest, Abdominal pain, Skin rash, Epistaxis, Arrhythmia, Constipation, Gastroi...	ORPHA:99745
Wolman Disease	Hepatic failure, Anemia, Nausea and vomiting, Cachexia, Steatorrhea, Abdominal distention, Malnut...	ORPHA:75233
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase...	OMIM:264470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Diarrhea, Recurrent otitis media, Failure to thrive, Autoimmune hemolyti...	OMIM:618495
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Chronic diarrhea	OMIM:613291
Galactosemia I	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Vomiting, Diarrhea, Hemol...	OMIM:230400
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Interface hepatitis, L...	OMIM:243150
Galactose Epimerase Deficiency	Weight loss, Nausea and vomiting, Jaundice, Hepatomegaly, Feeding difficulties, Splenomegaly	ORPHA:79238
Galactosemia	Decreased fertility, Hepatic failure, Cirrhosis, Vomiting, Diarrhea, Secondary amenorrhea, Premat...	ORPHA:352
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly	OMIM:617068
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Increased muscle lipid content, C...	OMIM:610717
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Diarrhea, Hepatosplenomegaly, Oligospermia, Intestinal obstructio...	ORPHA:85450
Neuroendocrine Tumor Of The Rectum	Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Weight loss, Abdomi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Weight loss, Abdomi...	ORPHA:100082
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Abnormal intestine morphology, Protracted diarrhea, Villous atrophy	OMIM:251850
Autosomal Agammaglobulinemia	Conjunctivitis, High palate, Diarrhea, Bronchiectasis, Osteomyelitis, Hepatitis, Malabsorption, S...	ORPHA:33110
Lymphoproliferative Syndrome, X-Linked, 2	Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Hem...	OMIM:300635
Patent Ductus Venosus	Hepatic steatosis, Congenital portosystemic venous shunt, Persistent patent ductus venosus, Decre...	OMIM:601466
Ddost-Cdg	Gastroesophageal reflux, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Con...	ORPHA:300536
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Skin rash, Jaundice, Steatorrhea, Failure to thrive, Malnutrition, Hepatomegal...	OMIM:612714
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Intermittent diarrhea, W...	ORPHA:1333
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Microvesicu...	OMIM:615595
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
Folate Malabsorption, Hereditary	Leukopenia, Diarrhea, Malabsorption, Feeding difficulties in infancy, Failure to thrive, Thromboc...	OMIM:229050
Multiple Acyl-Coa Dehydrogenase Deficiency	Increased circulating lactate dehydrogenase concentration, Vomiting, Elevated hepatic transaminas...	ORPHA:26791
Amoebiasis Due To Entamoeba Histolytica	Bloody diarrhea, Anemia, Diarrhea, Weight loss, Liver abscess, Abdominal pain, Elevated hepatic t...	ORPHA:67
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Elevated c...	OMIM:619868
Neuroendocrine Tumor Of The Colon	Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Weight loss, Abdomi...	ORPHA:100080
Cholestasis, Progressive Familial Intrahepatic, 9	Diarrhea, Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obl...	OMIM:619849
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom...	OMIM:615237
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Bronchiectasis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix...	OMIM:613490
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chron...	OMIM:614379
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Congenital Toxoplasmosis	Anemia, Diarrhea, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly...	ORPHA:858
Dengue Fever	Hypotension, Leukopenia, Diarrhea, Petechiae, Cerebral hemorrhage, Nausea and vomiting, Skin rash...	ORPHA:99828
Diarrhea 12, With Microvillus Atrophy	Vomiting, Villous atrophy, Dependency on parenteral nutrition, Bronchiectasis, Microvillus inclus...	OMIM:619445
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Vo...	OMIM:212140
Rabies	Sudden cardiac death, Anorexia, Diarrhea, Nausea and vomiting	ORPHA:770
Hemochromatosis, Type 4	Cirrhosis, Anemia, Impotence, Hepatic steatosis, Hepatomegaly, Arrhythmia, Osteoarthritis, Cardio...	OMIM:606069
Bile Acid Malabsorption, Primary, 2	Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated circul...	OMIM:619481
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Congestive heart failure, Abnormal ...	ORPHA:70472
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Elevated hepatic transaminase, Bruising susceptibility, Intrahepatic cholest...	OMIM:619484
Autoimmune Hepatitis	Thyroiditis, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis...	ORPHA:2137
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Failure to thrive, Feeding difficulties, Cardiomyopathy	ORPHA:26792
Immunodeficiency 7	Hypereosinophilia, Diarrhea, Chronic oral candidiasis, Recurrent otitis media, Failure to thrive,...	OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Diarrhea, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positive...	ORPHA:169160
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedullary...	OMIM:612840
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Pseudomyxoma Peritonei	Weight loss, Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Inflammation of ...	ORPHA:26790
Immunodeficiency, Common Variable, 2	Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent ...	OMIM:240500
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Ileoileal intussusception, Anemia, Weight los...	OMIM:619377
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Immunodeficiency, Common Variable, 1	Conjunctivitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neut...	OMIM:607594
Periodic Fever, Familial, Autosomal Dominant	Conjunctivitis, Oligoarthritis, Vomiting, Skin rash, Chronic constipation, Abdominal pain, Erysip...	OMIM:142680
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Infantile Liver Failure Syndrome 1	Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Macroc...	OMIM:615438
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Immunodeficiency 56	Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi...	OMIM:615207
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Diarrhea, Malabsorpt...	OMIM:615710
Primary Myelofibrosis	Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, ...	ORPHA:824
Hemochromatosis, Type 2A	Cirrhosis, Arthritis, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure,...	OMIM:602390
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Kaposi Sarcoma	Abnormality of the liver, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Skin ...	ORPHA:33276
Glycogen Storage Disease Vi	Increased hepatic glycogen content, Failure to thrive in infancy, Elevated hepatic transaminase, ...	OMIM:232700
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Graft Versus Host Disease	Diarrhea, Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Hepatosp...	ORPHA:39812
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Diarrhea, Elevated hepatic transamin...	OMIM:255120
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Infertility, Hypertension, Hepatic steatosis, Oligomenorrhea	ORPHA:280356
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, Diarrhea, T lymphocytopenia, B lymphocytopen...	OMIM:618108
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Jaundice, Hepatic steatosis, Nausea, Hepatomegaly, Neonatal death, Hepatic periportal n...	OMIM:231680
Neuroendocrine Tumor Of Stomach	Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Elevated hepatic transami...	ORPHA:100075
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Jejunitis, Weight loss, Villous atrophy, Malabsorpt...	ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Primary amenorrhea, Splenomegaly	OMIM:612526
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam...	OMIM:613313
Diffuse Cutaneous Mastocytosis	Hypotension, Vomiting, Abnormality of the liver, Diarrhea, Elevated total serum tryptase, Erythro...	ORPHA:79456
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Weight loss, Hepatitis, Malabsorption, Skin rash, Arthriti...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Anemia, Vomiting, Diarrhea, Abdominal distention, Failure to thrive, Th...	OMIM:608104
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Abnormal intestine morphology	ORPHA:977
Immunodeficiency, Common Variable, 11	Crohn's disease, Failure to thrive, Inflammation of the large intestine, Decreased proportion of ...	OMIM:615767
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Vomiting, Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tachycardia, Hepatom...	OMIM:600649
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Vascular Hyalinosis	Diarrhea, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia	OMIM:277175
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Cardiomegaly, Diarrhea, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hep...	ORPHA:42
Attrv30M Amyloidosis	Diarrhea, Weight loss, Impotence, Atrioventricular block, Constipation, Arrhythmia, Cardiomegaly,...	ORPHA:85447
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Lymphadenopathy, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Leigh Syndrome	Hepatocellular necrosis, Failure to thrive	OMIM:256000
Proprotein Convertase 1/3 Deficiency	Diarrhea, Villous atrophy, Malabsorption, Primary amenorrhea, Hypogonadotropic hypogonadism, Obesity	OMIM:600955
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity, Hypogonadism, Patent ductus arteriosus	OMIM:615996
Whipple Disease	Hypotension, Anemia, Diarrhea, Malabsorption, Arthritis, Abdominal pain, Cachexia, Uveitis, Erect...	ORPHA:3452
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Anemia, Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal intestine...	OMIM:226300
Caroli Disease	Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated cir...	ORPHA:53035
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Vomiting, Diarrhea, Abdominal distention	ORPHA:35122
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflammatory abnormality...	ORPHA:277
Sandhoff Disease	Congestive heart failure, Failure to thrive, Abnormal glycosphingolipid metabolism, Hepatomegaly,...	ORPHA:796
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,...	ORPHA:263665
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Purpura, Lymphadenopathy, Int...	ORPHA:343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, T lymphocytopenia, B lymphocytopenia, Diarrhea, Purulent rhinitis, Arthritis, Fai...	OMIM:601457
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619386
Acute Liver Failure	Hypotension, Vomiting, Diarrhea, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, ...	ORPHA:90062
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Bifid uvula, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly...	OMIM:614921
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Cholestasis-Lymphedema Syndrome	Cirrhosis, Nausea and vomiting, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormali...	ORPHA:1414
Immunodeficiency 97 With Autoinflammation	Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg...	OMIM:619802
Mednik Syndrome	Hepatic fibrosis, Cirrhosis, Jejunal atresia, Diarrhea, Volvulus, Microcolon, Cholestasis, Neonat...	OMIM:609313
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly	ORPHA:79084
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to...	OMIM:618234
Hemochromatosis Type 4	Hepatic steatosis, Cirrhosis, Abdominal pain, Congenital hepatic fibrosis	ORPHA:139491
Lysosomal Acid Lipase Deficiency	Hypotension, Diarrhea, Cachexia, Elevated hepatic transaminase, Hepatosplenomegaly, Bone-marrow f...	ORPHA:275761
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Diarrhea, Weight loss, Liver...	ORPHA:54251
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Skin rash, Impaired lympho...	OMIM:300400
Classic Galactosemia	Decreased fertility in females, Hepatic failure, Vomiting, Diarrhea, Secondary amenorrhea, Premat...	ORPHA:79239
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Weight loss, Abdominal distention, Protein-losing enteropathy, Hematochezia	ORPHA:103910
Pancreatic Colipase Deficiency	Megaloblastic anemia, Fat malabsorption, Steatorrhea, Chronic diarrhea, Exocrine pancreatic insuf...	ORPHA:309108
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Cog4-Cdg	Cirrhosis, Intermittent diarrhea, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated cir...	ORPHA:263501
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Gastrointestinal obs...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Gastrointestinal obs...	ORPHA:100077
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Diarrhea, Hemolytic anemia, Hepatocellular necrosis, Elliptocyt...	OMIM:618278
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Facial telangiectasia, Diarrhea, Elevated alkaline phosphatase of hepatic ...	ORPHA:100085
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure ...	OMIM:209920
Combined Saposin Deficiency	Feeding difficulties, Abnormal glycosphingolipid metabolism, Splenomegaly, Hepatomegaly	OMIM:611721
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia...	OMIM:235510
Sea-Blue Histiocyte Disease	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E...	OMIM:269600
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thrive, Eos...	OMIM:618999
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated...	OMIM:619658
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Abdominal pain, Splenomegaly	OMIM:118830
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis	ORPHA:488191
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Interstitial pneumonitis, Lymphopenia, Bone marr...	OMIM:127550
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Vomiting, Diarrhea	OMIM:610370
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Ec...	OMIM:304790
Ebola Hemorrhagic Fever	Leukopenia, Vomiting, Diarrhea, Poor appetite, Hepatitis, Abdominal pain, Abnormal bleeding, Lymp...	ORPHA:319218
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Hypoplasia of the thymus, Pyloric stenosis, Recurrent pneumonia, Accesso...	OMIM:613177
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ...	ORPHA:911
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, ...	OMIM:175500
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Prolonged ...	OMIM:613327
Chylomicron Retention Disease	Vomiting, Diarrhea, Steatorrhea, Failure to thrive, Malnutrition	OMIM:246700
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Pulmonary embolism, Episodic abdominal pain, Decreased body weight, Peria...	ORPHA:444490
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi...	OMIM:618641
Visceral Myopathy 1	Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Abdominal pain...	OMIM:155310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 42	Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C...	OMIM:616622
Aa Amyloidosis	Hypotension, Vomiting, Malabsorption, Enlarged kidney, Abdominal pain, Malnutrition, Cholestasis,...	ORPHA:85445
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Vo...	OMIM:613070
Shigellosis	Bloody diarrhea, Tenesmus, Thrombocytopenia, Acute colitis, Pneumonia, Splenic abscess, Arthritis...	ORPHA:810
Immunodeficiency 31C	Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Weight loss, Villous atrophy, Intuss...	OMIM:614162
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Au...	ORPHA:444463
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chronic diarrhea	OMIM:606824
Ppoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97278
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Chronic oral candidia...	OMIM:150550
Hemochromatosis, Type 1	Cirrhosis, Telangiectasia, Impotence, Abdominal pain, Elevated hepatic transaminase, Hepatocellul...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Elevated hepatic transa...	OMIM:616828
Familial Mediterranean Fever	Diarrhea, Pericarditis, Intestinal obstruction, Splenomegaly, Skin rash, Abdominal pain, Arthriti...	ORPHA:342
Neuroendocrine Neoplasm Of Appendix	Hypotension, Elevated hepatic transaminase, Palpitations, Hepatomegaly, Adenocarcinoma of the col...	ORPHA:100079
B4Galt1-Cdg	Diarrhea, Inflammatory abnormality of the skin, Small for gestational age, Elevated hepatic trans...	ORPHA:79332
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Hepatic fibrosis, Anemia, Erythroderma, Abdominal pain, Elevated hepatic transamin...	OMIM:615895
Immunodeficiency 11B With Atopic Dermatitis	Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Chronic diarrhea, Pneumon...	OMIM:617638
Sepsis In Premature Infants	Hypotension, Decreased body weight, Diarrhea, Hepatomegaly, Decreased liver function, Thrombocyto...	ORPHA:90051
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Cirrhosis, Vomiting, Diarrhea, Anemia, Oligomenorrhea, ...	ORPHA:79240
Dubowitz Syndrome	Anemia, High palate, Malabsorption, Submucous cleft hard palate, Acute lymphoblastic leukemia, Ec...	ORPHA:235
Immunodeficiency 91 And Hyperinflammation	Pulmonary hemorrhage, Intermittent diarrhea, Maculopapular exanthema, Neutrophilia, Elevated hepa...	OMIM:619644
Gray Platelet Syndrome	Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, Epistaxis, Thromb...	ORPHA:721
Citrullinemia Type Ii	Hepatic fibrosis, Vomiting, Diarrhea, Elevated hepatic transaminase, Hepatocellular carcinoma, He...	ORPHA:247585
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Eczema, Failure to thrive, Lymphadenopathy, Chronic diarrhea, Pneumonia,...	OMIM:607271
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Vomiting, Diarrhea	OMIM:614265
Immunodeficiency 87 And Autoimmunity	Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat...	OMIM:619573
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Diarrhea, T lymphocytopenia, Recurrent aspiration pneumonia, Elevated hepatic transaminase, Chron...	ORPHA:79124
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Chronic diarrhea, We...	ORPHA:330001
Sandhoff Disease, Juvenile Form	Diarrhea, Reduced beta-hexosaminidase activity, Failure to thrive, Constipation, Dysphagia	ORPHA:309162
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar...	OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro...	OMIM:613101
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Diarrhea, Recurrent otitis media, Absent circulating B cells, Failure...	OMIM:613501
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Tube feeding, Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, High palate, Vomit...	OMIM:619418
Rotor Syndrome	Intermittent jaundice, Storage in hepatocytes, Jaundice, Abnormal circulating enzyme concentratio...	ORPHA:3111
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Boutonneuse Fever	Leukopenia, Diarrhea, Petechiae, Skin rash, Abdominal pain, Elevated hepatic transaminase, Lympha...	ORPHA:83313
Diarrhea 6	Abdominal pain, Crohn's disease, Chronic diarrhea	OMIM:614616
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Hodgkin Lymphoma	Weight loss, Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrho...	OMIM:300972
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Vomiting, Diarrhea, Weight loss, Abdominal pain, Thyroiditis, Elev...	OMIM:212750
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal perforation, Intermittent diarrhea, Colonic diverticula, Diarrhea, Weight loss, Vomiti...	OMIM:603041
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Neonatal death	OMIM:615918
Dpm1-Cdg	Hepatic fibrosis, Gastrostomy tube feeding in infancy, Diarrhea, Elevated hepatic transaminase, H...	ORPHA:79322
Cold Agglutinin Disease	Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:56425
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, Diarrhea, T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Scle...	ORPHA:572
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Fat malabsorption...	ORPHA:30391
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Secondary amenorrhea, Oligomenorrhea, Congestive heart failure, Hyperten...	ORPHA:79083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma, Chro...	ORPHA:79259
Inflammatory Skin And Bowel Disease, Neonatal, 1	Bloody diarrhea, Villous atrophy, Pustule, Failure to thrive, Erythroderma, Blepharitis, Duodenitis	OMIM:614328
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Microscopic Polyangiitis	Diarrhea, Episcleritis, Subcutaneous hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, ...	ORPHA:727
Leprechaunism	Decreased body weight, Enlarged kidney, Abdominal distention, Megarectum, Failure to thrive, Hype...	ORPHA:508
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia	ORPHA:2430
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut...	OMIM:619375
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ...	ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Cirrhosis, Elevated hepatic transaminase, Abnormal bleeding, Pancytopen...	OMIM:614576
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Conjunctivitis, Vomiting, Diarrhea, Skin rash, Abdominal pain, Fasciitis, Arthritis, Bruising sus...	ORPHA:32960
Omenn Syndrome	Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Erythroderma, Failure to thrive, L...	OMIM:603554
Peritoneal Cystic Mesothelioma	Weight loss, Abdominal pain, Abdominal distention, Metrorrhagia, Dyspareunia, Constipation, Menor...	ORPHA:168816
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Membranoproliferative glomerulonephritis	OMIM:608709
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Peptic ulcer, Acute myeloid leukemia, Diarrhea, Chronic myelomonocytic leukemia, Hep...	ORPHA:98849
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular...	OMIM:610198
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertension, Oligomenorrhea	OMIM:613877
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Abno...	ORPHA:37042
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Hypogonadism, Increased HbA2 hemoglobin, Erythroid hyperplasia, ...	ORPHA:231222
Harderoporphyria	Vomiting, Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prol...	OMIM:618892
Niemann-Pick Disease, Type A	Elevated circulating alanine aminotransferase concentration, Vomiting, Sea-blue histiocytosis, Fe...	OMIM:257200
Immunodeficiency 85 And Autoimmunity	Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Decreased proportion o...	OMIM:619510
Gaucher Disease Type 2	Cardiac arrest, Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Grfoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97261
Primary Lipodystrophy	Cirrhosis, Splenomegaly, Angina pectoris, Congestive heart failure, Hypertension, Hepatic steatos...	ORPHA:90970
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Intermittent diarrhea, Recurrent aspiration pneumonia, Malnutrition, Fee...	OMIM:619971
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Majeed Syndrome	Abnormal inflammatory response, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin,...	ORPHA:77297
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Reduced natural killer cell count, Recurrent cutaneous funga...	ORPHA:276
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Asplenia, Atrophic gastritis, Diarrhea, Chronic oral candidiasis, Chronic ac...	OMIM:240300
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Vomiting, Diarrhea, Villous atrophy, Premature ovarian insufficiency, Feeding d...	OMIM:212065
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Coli...	OMIM:618394
Somatostatinoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97283
Rajab Interstitial Lung Disease With Brain Calcifications 2	Feeding difficulties in infancy, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat...	OMIM:619013
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Chilblains, Thrombocytopenia, Hepatomegaly, Feeding difficulties, Splenomegaly	OMIM:615010
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Vomiting, Diarrhea, Weight loss, Cachexia, Failure to thrive, Feeding difficulties	OMIM:612075
Interstitial Lung And Liver Disease	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic...	OMIM:615486
Aicardi-Goutieres Syndrome 7	Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hypertrophic cardiomyo...	OMIM:615846
Brunner Syndrome	Diarrhea	OMIM:300615
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Chronic diarrhea, Colitis, Thro...	OMIM:614700
Thymic Aplasia	Diarrhea, T lymphocytopenia, Chronic oral candidiasis, Malabsorption, Coombs-positive hemolytic a...	ORPHA:83471
Autoinflammation With Episodic Fever And Lymphadenopathy	Abdominal pain, Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsill...	OMIM:618852
Trimethylaminuria	Anemia, Hypertension, Tachycardia, Recurrent pneumonia, Neutropenia, Splenomegaly	OMIM:602079
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Vomiting, Elevated hepatic transaminase, Hepatomegaly	OMIM:201450
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Diarrhea, Dilated cardiomyopathy...	OMIM:601419
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Nausea and vomiting, Abdominal pain, Failure to thrive, Anorexia, Thrombocy...	ORPHA:79312
Glucagonoma	Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ...	ORPHA:97280
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr...	OMIM:603552
Dracunculiasis	Diarrhea, Nausea and vomiting, Arthritis, Skin rash, Recurrent cutaneous abscess formation	ORPHA:231
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, T lymphocytopenia, Bronchiectasis, Bowel irritability, Gastritis, Colitis, Recurrent sk...	OMIM:619381
Relapsing Fever	Hypotension, Leukopenia, Anemia, Vomiting, Diarrhea, Jaundice, Abdominal pain, Elevated hepatic t...	ORPHA:91547
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Vomiting, Pancreatitis, Diarrhea	OMIM:620137
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca...	ORPHA:157794
Congenital Generalized Lipodystrophy	Cirrhosis, Macroglossia, Congestive heart failure, Hepatic steatosis, Failure to thrive, Hypertro...	ORPHA:528
Lassa Fever	Conjunctivitis, Diarrhea, Nausea and vomiting, Jaundice, Abdominal pain, Abnormal bleeding, Shock...	ORPHA:99824
Legionnaires Disease	Hypotension, Endocarditis, Splenomegaly, Diarrhea, Nausea and vomiting, Hepatitis, Jaundice, Abdo...	ORPHA:549
Congenital Disorder Of Glycosylation, Type Ii	Gastroesophageal reflux, High palate, Decreased body weight, Diarrhea, Hepatomegaly, Iron deficie...	OMIM:607906
Hyperzincemia With Functional Zinc Depletion	Skin rash, Diarrhea, Hepatomegaly, Vasculitis	OMIM:601979
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Cerebral ischemia, Poor appetite, Reye syndrome-like episodes, Failure to thr...	ORPHA:927
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Hypertension, Naus...	OMIM:176000
Duodenal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Gastroi...	ORPHA:100076
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hepatic failure, Splenomegaly	ORPHA:664
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r...	OMIM:233710
Dominant Beta-Thalassemia	Diarrhea, Hepatocellular carcinoma, Hepatosplenomegaly, Feeding difficulties, Splenomegaly, High-...	ORPHA:231226
Snakebite Envenomation	Neuromuscular dysphagia, Hypotension, Vomiting, Diarrhea, Cerebral ischemia, Pseudobulbar paralys...	ORPHA:449285
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr...	OMIM:619281
Cryoglobulinemic Vasculitis	Abnormality of the liver, Petechiae, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, Purpu...	ORPHA:91138
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Abnormal bleeding, Ele...	ORPHA:507
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Bronchiectasis, Pyoderma, Lymphopenia, Hepatosplenomegaly, Abnormally low T ce...	OMIM:242700
Congenital Factor X Deficiency	Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ...	ORPHA:328
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Nausea and vomiting, Intracranial hemorrhage, Bruising susceptibility, Lymphadenopat...	ORPHA:3226
Combined Malonic And Methylmalonic Acidemia	Vomiting, Intermittent diarrhea, Elevated hepatic transaminase, Failure to thrive, Nasogastric tu...	ORPHA:289504
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis...	OMIM:602450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Diarrhea, T lymphocytopenia, Bronchiectasis, Malabsorption, Ma...	OMIM:242860
Yao Syndrome	Diarrhea, Weight loss, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Arthritis...	OMIM:617321
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Feeding difficulties in infancy, Elevated hepatic transami...	OMIM:301056
Familial Mediterranean Fever	Episodic abdominal pain, Crohn's disease, Vomiting, Diarrhea, Arthritis, Chronic constipation, Ab...	OMIM:249100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Elevated circulating alkaline phosphatase concentration, Anteriorly placed...	OMIM:239300
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Weight loss, Elevated jugular venous pressure, Arthritis, Abdominal pain, Infertility,...	ORPHA:465508
Indolent Systemic Mastocytosis	Elevated total serum tryptase, Skin rash, Abdominal cramps, Mastocytosis, Lymphadenopathy, Increa...	ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Diarrhea, Hemolytic anemia, Chronic oral candidiasis, Hepati...	OMIM:308230
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, Ly...	OMIM:617514
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, Hypertrophic car...	ORPHA:2348
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi...	ORPHA:209902
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Abdominal ...	ORPHA:90039
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Mast Cell Sarcoma	Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Waldenström Macroglobulinemia	Retinal hemorrhage, Diarrhea, Leukemia, Malabsorption, Normocytic anemia, Purpura, Congestive hea...	ORPHA:33226
Mevalonic Aciduria	Failure to thrive in infancy, Anemia, Vomiting, Diarrhea, Skin rash, Morbilliform rash, Elevated ...	OMIM:610377
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Erythroderma, T lymphocytopenia, Villous atrophy, Hemolytic anemia, B ly...	OMIM:606367
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Congestive heart fail...	ORPHA:99901
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Primary Ciliary Dyskinesia	Asplenia, Abnormal sperm motility, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent otit...	ORPHA:244
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Ulcerative colitis, Anal fiss...	OMIM:618935
Pediatric-Onset Graves Disease	Diarrhea, Nausea and vomiting, Sinus tachycardia, Neutropenia in presence of anti-neutropil antib...	ORPHA:525731
Classic Hodgkin Lymphoma	Weight loss, Poor appetite, Skin rash, Anorexia, Lymphadenopathy, Bone marrow hypocellularity, He...	ORPHA:391
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r...	OMIM:233690
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ...	OMIM:614300
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Chilblains, Elevated hepatic transaminas...	OMIM:619487
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Elevated hepatic transaminase, Anal a...	ORPHA:1572
Inflammatory Skin And Bowel Disease, Neonatal, 2	Vomiting, Hypertension, Failure to thrive, Recurrent pneumonia, Pustule, Secretory diarrhea	OMIM:616069
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Episodic abdominal pain, Elevate...	ORPHA:228305
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Anemia, Diarrhea, Weight loss, Nausea and vomiting, Failure to thrive, ...	ORPHA:1842
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Decreased liver function, Protein-lo...	ORPHA:79327
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Mu-Heavy Chain Disease	Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Diarrhea, Small vessel vasculitis, Nausea and vomiting, Skin rash, Abdominal pain...	ORPHA:36412
Hyperinsulinism Due To Hnf4A Deficiency	Vomiting, Diarrhea, Elevated hepatic transaminase, Large for gestational age, Increased hepatic g...	ORPHA:263455
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertension, Hepatomegaly, Irregular menstruation	OMIM:615238
Congenital-Onset Steinert Myotonic Dystrophy	Patent ductus arteriosus, Gastroesophageal reflux, Decreased body weight, Diarrhea, Bundle branch...	ORPHA:589821
Chronic Granulomatous Disease	Liver abscess, Malabsorption, Pyloric stenosis, Inflammatory abnormality of the eye, Eczema, Abno...	ORPHA:379
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Elevated hepatic transaminase, Punctate keratitis, Hepatomegaly,...	OMIM:557000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Elevated circulating alanine aminotransferase concentration, Arthritis, G...	OMIM:615559
Rat-Bite Fever	Lymphadenitis, Septic arthritis, Anemia, Vomiting, Endocarditis, Diarrhea, Weight loss, Oligoarth...	ORPHA:31205
Cutaneous Mastocytoma	Hypotension, Telangiectasia macularis eruptiva perstans, Vomiting, Diarrhea, Elevated total serum...	ORPHA:79455
Omenn Syndrome	Anemia, Chronic diarrhea, Erythroderma, Thyroiditis, Failure to thrive, Lymphadenopathy, Eosinoph...	ORPHA:39041
Polycythemia Vera	Pulmonary embolism, Weight loss, Abdominal pain, Intermittent claudication, Angina pectoris, Brui...	ORPHA:729
Progeria-Short Stature-Pigmented Nevi Syndrome	Gastroesophageal reflux, T lymphocytopenia, Small for gestational age, Premature ovarian insuffic...	ORPHA:2959
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased p...	OMIM:619652
Alg8-Cdg	Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Small for gestational age,...	ORPHA:79325
Mastocytosis	Hypotension, Diarrhea, Nausea and vomiting, Telangiectasia of the skin, Mastocytosis, Arrhythmia,...	ORPHA:98292
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome...	OMIM:616860
Immunodeficiency 46	Conjunctivitis, Anemia, Chronic oral candidiasis, Failure to thrive, Chronic diarrhea, Neutropeni...	OMIM:616740
Late-Onset Isolated Acth Deficiency	Hypotension, Diarrhea, Weight loss, Nausea and vomiting, Hepatitis, Normocytic anemia, Abdominal ...	ORPHA:199299
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Heart block, Hepatomegaly, Thrombocytopenia, Aplastic anemia, Sple...	ORPHA:398124
Immunodeficiency 17	T lymphocytopenia, Abnormal B cell morphology, Chronic oral candidiasis, Decreased proportion of ...	OMIM:615607
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Weight loss, Diarrhea, Lymphocytosis, Chroni...	OMIM:301074
Combined Immunodeficiency-Enteropathy Spectrum	Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti...	ORPHA:436252
Pancreatoblastoma	Abnormal lymph node morphology, Vomiting, Pancreatic calcification, Diarrhea, Weight loss, Jaundi...	ORPHA:677
Monosomy 13Q34	Hepatic steatosis, Epistaxis, Metrorrhagia, Prolonged prothrombin time, Obesity, Hematochezia, Pu...	ORPHA:96168
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Gastroesophageal reflux, Vomiting, Chronic constipation, Osteoarthritis,...	ORPHA:287
Beta-Thalassemia Major	Diarrhea, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Feeding difficulties, Splen...	ORPHA:231214
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Stevens-Johnson Syndrome	Sudden cardiac death, Conjunctivitis, Anemia, Esophageal stricture, Diarrhea, Weight loss, Nausea...	ORPHA:36426
Bronchial Neuroendocrine Tumor	Hypotension, Hepatic failure, Facial telangiectasia, Weight loss, Poor appetite, Cardiogenic shoc...	ORPHA:97287
Crimean-Congo Hemorrhagic Fever	Hypotension, Diarrhea, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural ...	ORPHA:99827
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Anemia, Diarrhea, Poor appetite, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Hepa...	ORPHA:247598
Necrotizing Enterocolitis	Hypotension, Bloody diarrhea, Vomiting, Diarrhea, Small for gestational age, Abdominal distention...	ORPHA:391673
Alstrom Syndrome	Tubulointerstitial nephritis, Irregular menstruation, Chronic active hepatitis, Elevated hepatic ...	OMIM:203800
Polycythemia Vera	Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro...	OMIM:263300
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Gastroesophageal reflux, Pulmonic stenosis, Congestive heart fai...	ORPHA:2414
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ...	OMIM:133180
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Maculopapular exanthema, Erythroderma, Infectious encephalitis, Petechiae, Skin rash, Jau...	ORPHA:540
Osteopetrosis, Autosomal Recessive 8	Anemia, Failure to thrive, Thrombocytopenia, Hepatomegaly, Feeding difficulties, Splenomegaly	OMIM:615085
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Skin rash, Lymphopenia, Hepatospl...	ORPHA:35078
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Diarrhea, Hypogonadism, Poor appetite, Failure to thrive, Hepatomegaly,...	OMIM:201100
Hereditary Central Diabetes Insipidus	Vomiting, Diarrhea, Weight loss	ORPHA:30925
Babesiosis	Leukopenia, Hepatic failure, Hemolytic anemia, Nausea and vomiting, Jaundice, Congestive heart fa...	ORPHA:108
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell count, Elevated hepa...	ORPHA:158057
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut...	OMIM:619824
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Abnormal erythrocyte enzyme level, Ab...	ORPHA:100924
Malakoplakia	Diarrhea, Inflammatory abnormality of the skin, Skin rash, Neoplasm of the rectum, Abdominal pain...	ORPHA:556
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:259710
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat...	OMIM:615381
Hereditary Folate Malabsorption	Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Nausea and vomiting, Glossitis, Pancytop...	ORPHA:90045
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Bloody diarrhea, Lymphocytosis, Skin rash, Vasculitis in the skin...	OMIM:617718
Maculopapular Cutaneous Mastocytosis	Vomiting, Diarrhea, Elevated total serum tryptase, Abdominal pain, Nausea	ORPHA:79457
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Hepatomegaly, ...	OMIM:610333
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Abdominal obesity, Hypertension	OMIM:615980
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Elevated circulating alanine aminotransferase concentration, ...	OMIM:608836
Biotinidase Deficiency	Conjunctivitis, Vomiting, Diarrhea, Decreased circulating biotinidase concentration, Feeding diff...	OMIM:253260
Amyloidosis, Familial Visceral	Skin rash, Hypertension, Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e...	OMIM:261680
Juvenile Idiopathic Arthritis	Malabsorption, Skin rash, Abdominal pain, Arthritis, Uveitis, Hepatomegaly, Mediastinal lymphaden...	ORPHA:92
Glutaric Aciduria Iii	Vomiting, Diarrhea, Hypertension, Failure to thrive, Reduced peroxisomal glutaryl-CoA oxidase act...	OMIM:231690
Immunodeficiency 59 And Hypoglycemia	Recurrent aphthous stomatitis, High palate, Herpes simplex encephalitis, Malabsorption, Acne inve...	OMIM:233600
Fructose-1,6-Bisphosphatase Deficiency	Vomiting, Diarrhea, Elevated hepatic transaminase, Reye syndrome-like episodes, Abnormal circulat...	ORPHA:348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, Lymphopenia, Autoim...	OMIM:102700
Abetalipoproteinemia	Hepatic fibrosis, Cirrhosis, Vomiting, Anemia, Fat malabsorption, Keratoconjunctivitis sicca, Ele...	ORPHA:14
Lynch Syndrome	Pancreatic adenocarcinoma, Weight loss, Nausea and vomiting, Malabsorption, Neoplasm of the pancr...	ORPHA:144
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Vomiting, Diarrhea, Reduced left ventricular ejection fraction, Poor appetite, Skin ...	ORPHA:542323
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypogonadism, Microcolon, Aganglionic megacolon, Abdominal pain, Constipation, Hepatomegaly, Arrh...	ORPHA:163746
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ...	ORPHA:2929
Immunodeficiency 15B	Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Chronic diarrhea,...	OMIM:615592
Williams Syndrome	Sudden cardiac death, Peptic ulcer, Colonic diverticula, Functional abnormality of male internal ...	ORPHA:904
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypertension, Hepatomegaly	ORPHA:363400
Infantile Sialic Acid Storage Disease	High palate, Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, Ascites, Va...	OMIM:269920
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morph...	ORPHA:391487
Zygomycosis	Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Unusual gast...	ORPHA:73263
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Retinal hemorrha...	ORPHA:464321
Lipodystrophy, Familial Partial, Type 3	Primary amenorrhea, Cirrhosis, Hypertension, Hepatic steatosis, Oligomenorrhea	OMIM:604367
Shwachman-Diamond Syndrome 2	High palate, Diarrhea, Neutropenia, Normocytic anemia, Steatorrhea, Failure to thrive, Prolonged ...	OMIM:617941
Idiopathic Hypereosinophilic Syndrome	Feeding difficulties in infancy, Supraventricular arrhythmia, Elevated hepatic transaminase, Gene...	ORPHA:3260
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Gastroesophageal reflux, High palate, Eczema, Failure to thrive, Feeding difficulties, Obesity, R...	OMIM:617157
Hyper-Igd Syndrome	Lymphadenitis, Vomiting, Diarrhea, Chronic oral candidiasis, Skin rash, Abdominal pain, Neutrophi...	OMIM:260920
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Thrombotic Thrombocytopenic Purpura	Diarrhea, Abdominal pain, Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarcti...	ORPHA:54057
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Pediatric Systemic Lupus Erythematosus	Leukopenia, Malar rash, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Discoid lu...	ORPHA:93552
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Chronic constipation, Abdominal pain, Dilated cardiomyopathy, Left ventricula...	OMIM:248360
Wilson Disease	Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Dysphagia, Thrombocytopenia, Splenomeg...	OMIM:277900
Adams-Oliver Syndrome 6	Hepatic fibrosis, Esophageal varix, Portal hypertension, Splenomegaly, Tricuspid regurgitation	OMIM:616589
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Abdominal pain, Skin rash, Lymphadeno...	OMIM:611762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, ...	ORPHA:331206
Microsporidiosis	Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion of CD4-positive ...	ORPHA:2552
Microgastria-Limb Reduction Defect Syndrome	Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi...	ORPHA:2538
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Diarrhea, Periodontitis, Abdomin...	ORPHA:486
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Vomiting, Failure to thrive, Feeding difficulties in infancy	OMIM:210200
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiac arrest, Elevated hepatic transaminase, Hepatic steatosis, Premature ventricu...	OMIM:212138
Lujo Hemorrhagic Fever	Hypotension, Diarrhea, Elevated hepatic transaminase, Shock, Dysphagia, Thrombocytopenia, Skin ra...	ORPHA:319213
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Weight loss, Abdominal pain, Pericarditis, Leukocytosis, Arrhythmia, Myoca...	ORPHA:188
Bacterial Toxic-Shock Syndrome	Hypotension, Septic arthritis, Diarrhea, Fasciitis, Shock, Glomerulonephritis, Myositis, Capillar...	ORPHA:36234
Satoyoshi Syndrome	Malabsorption, Diarrhea, Amenorrhea	OMIM:600705
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Leukopenia, Anemia, Diarrhea, Weight loss, Cardiac arrest, Jaundice, Elevated hepati...	ORPHA:20
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Chronic sinusitis, Recur...	OMIM:612692
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Skin rash, Abdominal pain, Neutrophilia, Lymphadenopathy, Leukocytosis, Chronic diarrhe...	OMIM:617099
Nodular Non-Suppurative Panniculitis	Weight loss, Nausea and vomiting, Abdominal pain, Inflammatory abnormality of the eye, Hepatomega...	ORPHA:33577
Mirage Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Leukopenia, Esophageal stricture, Decreased bo...	OMIM:617053
Mucopolysaccharidosis, Type Iiib	Diarrhea, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
Congenital Disorder Of Glycosylation, Type Id	Vomiting, High palate, Diarrhea, Villous atrophy, Bifid uvula, Failure to thrive	OMIM:601110
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:614924
Williams-Beuren Syndrome	Gastroesophageal reflux, Rectal prolapse, Colonic diverticula, Feeding difficulties in infancy, C...	OMIM:194050
Familial Colorectal Cancer Type X	Pancreatic adenocarcinoma, Stomach cancer, Weight loss, Nausea and vomiting, Malabsorption, Neopl...	ORPHA:440437
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Portal hypertension, Microcolon, Hepatic failure, Intestinal malrotation	OMIM:619431
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Hepatic fibrosis, Esophageal stricture, Dilated cardiomyopathy, Pancytopenia, Failure...	OMIM:613989
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Pancreatitis, Hepatomegaly, Oligomenorrhea	ORPHA:435651
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Poor appetite, Dilated cardiomyopathy, Nausea, Hypergonadotropic hypogonadism, Arrhythm...	ORPHA:352447
Autoerythrocyte Sensitization Syndrome	Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Auto...	ORPHA:324636
Immunodeficiency 64 With Lymphoproliferation	Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro...	OMIM:618534
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Constipation, Diarrhea	OMIM:615548
Central Diabetes Insipidus	Diarrhea, Weight loss, Nausea and vomiting, Failure to thrive, Anorexia	ORPHA:178029
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Malar rash, Elevated proportion of...	OMIM:603909
Prolidase Deficiency	Anemia, High palate, Petechiae, Crusting erythematous dermatitis, Eczema, Elevated circulating as...	OMIM:170100
Mucopolysaccharidosis, Type Ii	Splenomegaly, Diarrhea, Macroglossia, Congestive heart failure, Hepatosplenomegaly, Recurrent oti...	OMIM:309900
Gaucher Disease, Type Iii	Decreased body weight, Pancytopenia, Decreased beta-glucocerebrosidase level, Hepatomegaly, Throm...	OMIM:231000
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Patent ductus arterio...	OMIM:208540
Transaldolase Deficiency	Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Telangiectasia, Poor suck, Anemia, Small f...	OMIM:606003
Primary Sclerosing Cholangitis	Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated ...	ORPHA:171
Secondary Intestinal Lymphangiectasia	Cirrhosis, Vomiting, Increased stool alpha1-antitrypsin concentration, Intussusception, Malabsorp...	ORPHA:90363
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Vomiting, Diarrhea, Hepatomegaly	OMIM:560000
Schnitzler Syndrome	Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis	ORPHA:37748
Wiskott-Aldrich Syndrome	Sudden cardiac death, Hypoplasia of the thymus, Eczema, Chronic diarrhea, Prolonged bleeding time...	ORPHA:906
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci...	OMIM:605814
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Co...	OMIM:613960
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatic steatosis, Bleeding with minor or no trauma, Hepatomegaly,...	OMIM:619525
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Bronchiectasis, Eczema, Macroglossia, Recurrent otitis media, Eosinophilia, Chronic diarrhea, Ker...	OMIM:618523
Mucopolysaccharidosis, Type Iiic	Diarrhea, Asymmetric septal hypertrophy, Hepatomegaly, Dysphagia, Splenomegaly	OMIM:252930
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Hepatic steatosis, Failure to thrive, Myocardial infarction, Pancreatitis	OMIM:236200
Microvillus Inclusion Disease	Diarrhea, Hypovolemia, Villous atrophy, Abnormality of small intestinal villus morphology, Abdomi...	ORPHA:2290
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Skin rash, Abdominal pain, Pericarditis, Lymphadenopathy, Hepatome...	ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Hepatomegaly, Decreased liver function, Feeding difficulties, Cardiomyopathy	OMIM:614922
Spontaneous Periodic Hypothermia	Skin rash, Nausea and vomiting, Diarrhea, Arrhythmia	ORPHA:29822
Fetal Gaucher Disease	High palate, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Stillbirth, A...	ORPHA:85212
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Cirrhosis, Vomiting, High palate, Slender build, Anemia, Small for gesta...	OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, A...	OMIM:224100
Acquired Hypertrichosis Lanuginosa	Weight loss, Poor appetite, Glossitis, Macroglossia, Lymphadenopathy, Chronic diarrhea	ORPHA:2221
Primary Intestinal Lymphangiectasia	Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem...	ORPHA:90362
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Hepatitis, Hypersplenism, Feeding d...	OMIM:613385
Fructose Intolerance, Hereditary	Cirrhosis, Vomiting, Jaundice, Abdominal pain, Elevated hepatic transaminase, Hepatic steatosis, ...	OMIM:229600
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Diarrhea, Megaloblastic anemia, Cardiac arrest, Congestive heart f...	ORPHA:49827
Adiposis Dolorosa	Diarrhea, Arthritis, Bruising susceptibility, Xerostomia, Constipation, Telangiectasia of the ski...	ORPHA:36397
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Esophageal varix, Hyper...	OMIM:263200
Immunodeficiency 32B	Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to thrive, Sinusitis, Hepatomegaly, ...	OMIM:226990
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Oligomenorrhea	ORPHA:79085
Gamma-Heavy Chain Disease	Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Aut...	ORPHA:100026
Erythroderma Desquamativum	Failure to thrive, Diarrhea, Seborrheic dermatitis	ORPHA:314
Avian Influenza	Conjunctivitis, Leukopenia, Vomiting, Infectious encephalitis, Diarrhea, Myelitis, Hepatitis, Abd...	ORPHA:454836
Methanol Poisoning	Vomiting, Permanent atrial fibrillation, Diarrhea, Cerebral hemorrhage, Abdominal pain, Intracran...	ORPHA:31825
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H...	ORPHA:699
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, B lymphocytopenia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, F...	OMIM:601495
Blue Diaper Syndrome	Elevated hepatic transaminase, Diarrhea, Increased body weight	ORPHA:94086
Farber Lipogranulomatosis	Decreased acid ceramidase activity, Lipogranulomatosis, Arthritis, Failure to thrive, Hepatomegal...	OMIM:228000
Plague	Hypotension, Bloody diarrhea, Diarrhea, Inflammatory abnormality of the eye, Hepatomegaly, Hemate...	ORPHA:707
Marburg Hemorrhagic Fever	Hypotension, Bloody diarrhea, Diarrhea, Elevated hepatic transaminase, Reticulocytosis, Pericardi...	ORPHA:99826
Rapadilino Syndrome	Cleft palate, High palate, Diarrhea, High, narrow palate	OMIM:266280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Erythroderma, Lymphocytos...	ORPHA:169154
Mixed Connective Tissue Disease	Pulmonary arterial hypertension, Gastroesophageal reflux, Leukopenia, Hemolytic anemia, Skin rash...	ORPHA:809
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Rectal fistula, Volvulus, Anal atresia, Intestinal mal...	OMIM:115470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Re...	ORPHA:228308
Vipoma	Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Weight loss, Poor appet...	ORPHA:97282
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Poor suck, Feeding difficulties in infancy, Diffuse hepatic steatosis, Left ventr...	ORPHA:746
Liver Disease, Severe Congenital	Systolic heart murmur, Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation,...	OMIM:619991
Fanconi Anemia, Complementation Group O	Neonatal death, Anal atresia, Rectal atresia	OMIM:613390
Adult-Onset Still Disease	Hepatitis, Skin rash, Abdominal pain, Neutrophilia, Elevated hepatic transaminase, Generalized ly...	ORPHA:829
Syndromic Diarrhea	Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Abnormality of the liver, Bloody diarrhea,...	ORPHA:84064
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r...	OMIM:306400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Failure to thrive, Female infertility, Poor suck	OMIM:619518
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep...	ORPHA:1304
Mucopolysaccharidosis, Type Iiia	Diarrhea, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252900
Follicular Lymphoma	Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom...	ORPHA:545
Sandhoff Disease	Episodic abdominal pain, Impotence, Reduced beta-hexosaminidase activity, Macroglossia, Hepatospl...	OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear...	OMIM:611126
Macrophage Activation Syndrome	Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ...	ORPHA:158061
Hardikar Syndrome	Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac...	OMIM:301068
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Failure to thrive, Hepatomegaly, Colitis, Pancreatitis	OMIM:615947
Zollinger-Ellison Syndrome	Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Duodenal ulcer, Weight loss, Dia...	ORPHA:913
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St...	OMIM:612310
Hyaline Fibromatosis Syndrome	Failure to thrive, Diarrhea	OMIM:228600
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Uveitis, Recurrent pneumonia, Lymphadenopathy, Hemophagocytosis...	OMIM:615122
Transcobalamin Ii Deficiency	Vomiting, Diarrhea, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Failure to thrive, Hep...	OMIM:275350
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Hepatomegaly, Mediastinal lymphadenopathy, ...	ORPHA:158029
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic diarrhea	OMIM:614699
Griscelli Syndrome	Leukopenia, Hepatitis, Pyloric stenosis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, B...	ORPHA:381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Diarrhea, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididy...	OMIM:307200
Beta-Thalassemia	Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy...	ORPHA:848
Osteopetrosis, Autosomal Recessive 5	Anemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis, Extramedul...	OMIM:259720
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ...	OMIM:614470
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Anemia, Vomiting, Diffuse hepatic steatosis, Failure to thrive, Hypertrophic cardiomyopathy, Hepa...	ORPHA:436271
Tyrosinemia, Type I	Cirrhosis, Hepatic failure, Anemia, Paralytic ileus, Enlarged kidney, Elevated hepatic transamina...	OMIM:276700
Felty Syndrome	Anemia, Rhinitis, Weight loss, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Lymphaden...	ORPHA:47612
Fabry Disease	Anemia, Vomiting, Diarrhea, Transient ischemic attack, Abdominal pain, Left ventricular hypertrop...	OMIM:301500
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Abdominal pain, Constipation, Feeding difficulties	OMIM:613638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
D-Bifunctional Protein Deficiency	Very long chain fatty acid accumulation, High palate, Feeding difficulties in infancy, Elevated h...	OMIM:261515
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Erythermalgia, Primary	Diarrhea, Keratoconjunctivitis sicca, Palpitations, Constipation, Xerostomia	OMIM:133020
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Failure to thrive, Hyper...	OMIM:618329
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Vomiting, Diarrhea, Jaundice, Abdominal pain, Abdomin...	ORPHA:469
Sapho Syndrome	Osteomyelitis, Malabsorption, Enthesitis, Abdominal pain, Skin rash, Arthritis, Synovitis, Steato...	ORPHA:793
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami...	OMIM:617156
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea	OMIM:617442
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Eczema, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypoc...	OMIM:615688
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Vomiting, Diarrhea, Feeding difficulties in infancy, Failure to thrive	OMIM:264350
Lysinuric Protein Intolerance	Leukopenia, Splenomegaly, Pulmonary hemorrhage, Vomiting, Diarrhea, Anemia, Failure to thrive, Ma...	OMIM:222700
Carney Triad	Anemia, Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Lymphadenopathy, G...	ORPHA:139411
Enterokinase Deficiency	Failure to thrive, Diarrhea	OMIM:226200
Aromatase Deficiency	Enlarged polycystic ovaries, Eunuchoid habitus, Hepatic steatosis, Female infertility, Male infer...	ORPHA:91
Immunodeficiency 22	Anemia, Diarrhea, Chronic oral candidiasis, Protracted diarrhea, Pericarditis, Failure to thrive,...	OMIM:615758
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Infectious encephalitis, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymph...	OMIM:308240
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal...	OMIM:615234
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Congestive heart fail...	ORPHA:52430
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly	ORPHA:369840
Hemorrhagic Fever-Renal Syndrome	Hypotension, Decreased body weight, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepati...	ORPHA:340
Botulism	Diarrhea, Nausea and vomiting, Abdominal pain, Xerostomia, Constipation, Arrhythmia, Dysphagia	ORPHA:1267
Ring Chromosome Y Syndrome	Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S...	ORPHA:261529
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Elevated hepatic transaminase, Increased intramyocellular lipid ...	ORPHA:98907
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age, Truncal obesity	ORPHA:293964
Ciliary Dyskinesia, Primary, 37	Chronic rhinitis, Female infertility, Bronchiectasis	OMIM:617577
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Failure to thrive, Pancreatic fibrosis, Hepatom...	OMIM:616263
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Leukopenia, Splenomegaly, Anemia, Enlarged kidney, Macroglossia, Conges...	OMIM:617303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, High palate, Diarrhea, B lymphocytopenia	OMIM:614069
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, Folate-unresponsive m...	ORPHA:2575
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Abdominal pain, Keratoconjunctivitis sicca, Steatorrhea, Abdominal distent...	ORPHA:309031
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Petechiae, Increased mean platelet volume, Bruising susceptibility, Reticulocyt...	OMIM:314050
Griscelli Syndrome Type 2	Petechiae, Nausea and vomiting, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepato...	ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi...	OMIM:617591
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea	ORPHA:3217
Hurler-Scheie Syndrome	Rhinitis, Abnormality of the tonsils, Hepatomegaly, Splenomegaly, Cardiomyopathy	ORPHA:93476
Good Syndrome	Thymoma, Anemia, Diarrhea, Bronchiectasis, Aplasia/Hypoplasia of the thymus, Sinusitis, Mediastin...	ORPHA:169105
Muckle-Wells Syndrome	Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Skin rash, Abdominal pain, Arthritis, Uvei...	ORPHA:575
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Arthritis, Jaun...	ORPHA:93111
Acrodermatitis Enteropathica	Conjunctivitis, Weight loss, Poor appetite, Malabsorption, Glossitis, Failure to thrive, Anorexia...	ORPHA:37
3-Methylglutaconic Aciduria, Type Viib	Tube feeding, Leukopenia, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Recurre...	OMIM:616271
Foodborne Botulism	Diarrhea, Nausea and vomiting, Abdominal pain, Xerostomia, Constipation, Arrhythmia, Dysphagia	ORPHA:228371
Infection-Related Hemolytic Uremic Syndrome	Intestinal perforation, Bloody diarrhea, Vomiting, Septic arthritis, Diarrhea, Hemolytic anemia, ...	ORPHA:544482
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Infection associated neutropenia, Bone marrow h...	ORPHA:445038
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Aortic regurgitation, Mitral regurgitation, Arrhythmia, Cleft palate, Obesity	ORPHA:254346
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ...	ORPHA:231401
Yellow Fever	Diarrhea, Supraventricular arrhythmia, Shock, Capillary leak, Hematemesis, Thrombocytopenia, Elev...	ORPHA:99829
Coffin-Lowry Syndrome	High palate, Decreased body weight, Narrow palate, Mitral regurgitation, Rectal prolapse	OMIM:303600
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Weight loss, Abdominal distention, Failure to thrive, Malnutrition, Hyperacti...	ORPHA:35710
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congesti...	ORPHA:280365
Klippel-Trénaunay Syndrome	Pulmonary embolism, Abnormality of the menstrual cycle, Congestive heart failure, Internal hemorr...	ORPHA:90308
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy, Bronchiectasis, Diarrhea, Weight loss	ORPHA:411703
Wiskott-Aldrich Syndrome	Diarrhea, Large vessel vasculitis, Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportio...	OMIM:301000
Reactive Arthritis	Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Weight loss, Enthesitis, ...	ORPHA:29207
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus, Microcolon, Py...	OMIM:619351
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Vomiting, Diarrhea, Failure to thrive, Feeding difficulties	OMIM:177735
Immunodeficiency 58	Recurrent aphthous stomatitis, Chronic diarrhea, Bronchiectasis, Allergic rhinitis, Eczema, Cutan...	OMIM:618131
Primary Pigmented Nodular Adrenocortical Disease	Irregular menstruation, Elevated hepatic transaminase, Hypertension, Bruising susceptibility, Hep...	ORPHA:189439
Behçet Disease	Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Splenomegaly, End...	ORPHA:117
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, High palate, Petechiae, Jaundice, Elevated hepatic transaminase, Failur...	OMIM:251290
Aregenerative Anemia	Cognitive impairment, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Emotional l...	ORPHA:101096
Neutral Lipid Storage Myopathy	Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc...	ORPHA:98908
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Irregular menstruation, Hypertension, Bruising susceptibility, Hepatic steatosis, Abnormal libido...	ORPHA:189427
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Diarrhea...	OMIM:619313
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Intractable diarrhea, Recurrent otitis media, Failur...	OMIM:617475
Lipe-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Oligomenorrhea	ORPHA:435660
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Decreased mi...	OMIM:124000
Acquired Generalized Lipodystrophy	Cirrhosis, Hypertension, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Panniculitis, Abnor...	ORPHA:79086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Esophagitis, Feeding d...	OMIM:615356
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:609981
Hyperprolinemia Type 2	Diarrhea, Abdominal pain, Abnormal circulating enzyme concentration or activity, Dysphagia, Feedi...	ORPHA:79101
Kawasaki Disease	Conjunctivitis, Diarrhea, Nausea and vomiting, Hepatitis, Skin rash, Jaundice, Abdominal pain, Ar...	ORPHA:2331
Reynolds Syndrome	Biliary cirrhosis, Erythema nodosum, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase,...	OMIM:613471
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, High palate, Increased intramyocellular lipid droplets, Failure to thrive, Hypertrophic c...	OMIM:220110
Dysbetalipoproteinemia	Angina pectoris, Hepatic steatosis, Gout, Acute pancreatitis, Hepatomegaly, Obesity	ORPHA:412
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro...	ORPHA:331235
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Abnormal left ventricular functi...	ORPHA:781
Intellectual Developmental Disorder, Autosomal Dominant 51	Poor suck, Chronic constipation, Recurrent otitis media, Failure to thrive, Chronic diarrhea, Fee...	OMIM:617788
Listeriosis	Septic arthritis, Diarrhea, Pericarditis, Pneumonia, Splenic abscess, Endocarditis, Osteomyelitis...	ORPHA:533
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Anxiety	OMIM:266265
Glycogen Storage Disease Ia	Intermittent diarrhea, Enlarged kidney, Elevated hepatic transaminase, Abnormal bleeding, Hepatoc...	OMIM:232200
Coach Syndrome 1	Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Elevated hepatic transaminase, Hy...	OMIM:216360
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Splenomegaly, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase level, Jaundice,...	OMIM:613470
Ethylmalonic Encephalopathy	Failure to thrive, Diarrhea, Petechiae	ORPHA:51188
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarrhea, Rectovaginal fistula	OMIM:270420
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Reduced leve...	OMIM:224120
Leptospirosis	Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Diarrhea, Nausea and vomiting, Hepatitis, ...	ORPHA:509
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Diarrhea, Impotence, Constipation, Cardiome...	OMIM:105210
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Aicardi-Goutieres Syndrome 1	Petechiae, Feeding difficulties in infancy, Multiple gastric polyps, Vasculitis, Elevated hepatic...	OMIM:225750
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Feeding difficulties, Microvesicular hepatic steatosis	OMIM:616672
Scrub Typhus	Hypotension, Nausea and vomiting, Skin rash, Abdominal pain, Abnormal bleeding, Lymphadenopathy, ...	ORPHA:83317
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cirrhosis, Hepatic failure, Abnormality of the pancreas, Villous atrophy, Small...	OMIM:222470
Hb Bart'S Hydrops Fetalis	Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Porphyria	Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Constipation	ORPHA:738
Gaucher Disease, Type Ii	Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Failure to thrive, Thrombocytope...	OMIM:230900
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g...	ORPHA:480536
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Gastroesophageal reflux, Vomiting, Elevated hepatic transaminase, Incre...	ORPHA:17
Autosomal Recessive Polycystic Kidney Disease	Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Protein-losing enterop...	ORPHA:731
Beta-Ketothiolase Deficiency	Hypotension, Vomiting, Diarrhea, Weight loss, Hypertension, Anorexia, Thrombocytosis, Hepatomegal...	ORPHA:134
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Acute Intermittent Porphyria	Diarrhea, Nausea and vomiting, Pseudobulbar paralysis, Abdominal pain, Hepatocellular carcinoma, ...	ORPHA:79276
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Anemia, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposi...	ORPHA:329971
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron...	OMIM:616005
Retinal Dystrophy And Microvillus Inclusion Disease	Bronchiectasis, Chronic diarrhea	OMIM:619446
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi...	OMIM:301078
Gaucher Disease Type 1	Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Hypersplenism, Abdominal pain, Br...	ORPHA:77259
Sickle Cell Disease	Hemolytic anemia, Target cells, Priapism, Splenic infarction, Jaundice, Abdominal pain, Hypertens...	OMIM:603903
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Scleroderma	Abnormal large intestine morphology, Fasciitis, Abnormal stomach morphology, Pericarditis, Osteom...	ORPHA:801
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Aplasia/Hypoplasia of the pancreas, Failure to thrive, Hepatomegaly, Exocrine pancreatic insuffic...	ORPHA:456312
Hereditary Angioedema Type 1	Hypotension, Vomiting, Abnormal uvula morphology, Diarrhea, Intestinal edema, Abdominal pain, Abn...	ORPHA:100050
Farber Disease	Hepatic failure, Hepatic fibrosis, Anemia, Arthritis, Elevated hepatic transaminase, Abnormal cir...	ORPHA:333
Agammaglobulinemia, X-Linked	Conjunctivitis, Septic arthritis, Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Bron...	OMIM:300755
Turcot Syndrome With Polyposis	Vomiting, Diarrhea, Abdominal pain, Hepatoblastoma, Intestinal polyposis, Colon cancer, Nausea, D...	ORPHA:99818
Melas	Pulmonary arterial hypertension, Recurrent pancreatitis, Anemia, Vomiting, Diarrhea, Concentric h...	ORPHA:550
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic ...	OMIM:266200
Niemann-Pick Disease, Type C1	Low cholesterol esterification rate, Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cell...	OMIM:257220
Smith-Lemli-Opitz Syndrome	Bifid uvula, Eczema, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cleft palate, ...	OMIM:270400
Addison Disease	Hypotension, Thymoma, Diarrhea, Weight loss, Nausea and vomiting, Decreased female libido, Normoc...	ORPHA:85138
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul...	OMIM:617388
Fish-Eye Disease	Angina pectoris, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Infantile Systemic Hyalinosis	Chronic diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Aplasia/Hypoplasia of...	ORPHA:2176
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag...	ORPHA:335
Intestinal Botulism	Nausea and vomiting, Xerostomia, Diarrhea, Dysphagia	ORPHA:178481
Glycogen Storage Disease Ib	Splenomegaly, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypertens...	OMIM:232220
Lysinuric Protein Intolerance	Diarrhea, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Th...	ORPHA:470
Cimdag Syndrome	Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly, Feeding difficulties, Cholelithiasis	OMIM:619273
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Abdominal pain, Reticulocytosis, Persistence of hemoglobi...	ORPHA:251380
Pachydermoperiostosis	Peptic ulcer, Anemia, Osteomyelitis, Malabsorption, Arthritis, Gastrointestinal hemorrhage, Hepat...	ORPHA:2796
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, High palate, Diarrhea	OMIM:300215
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Arrhythmia, Nausea, Hypergonadotropic hypogonadism, Chronic diarrhea	OMIM:615084
Systemic Sclerosis	Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Glomerulonephriti...	ORPHA:90291
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Gastroesophageal reflux, High palate, Hepatic steatosis, Constipation, ...	OMIM:619934
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, He...	OMIM:269700
Hyperlipoproteinemia, Type I	Episodic abdominal pain, Splenomegaly, Vomiting, Jaundice, Hepatosplenomegaly, Nausea, Pancreatitis	OMIM:238600
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis, Rectal abscess, Leukocytosis, Ch...	OMIM:116920
Bloom Syndrome	Decreased fertility in females, Malar rash, Bronchiectasis, Small for gestational age, Azoospermi...	OMIM:210900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice...	OMIM:607626
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Bloody diarrhea, Left ventricular hypertrophy, Recurrent gas...	ORPHA:294023
Neuroblastoma, Susceptibility To, 1	Anemia, Diarrhea, Weight loss, Abdominal pain, Hypertension, Failure to thrive, Abdominal mass	OMIM:256700
Rhabdoid Tumor	Thrombocytopenia, Internal hemorrhage, Hypertension, Anemia	ORPHA:69077
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Sea-blue histiocytosis, Decreased beta-galactosidase activity, Failure ...	OMIM:230600
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Esopha...	OMIM:616028
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic a...	OMIM:613011
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acut...	OMIM:608594
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol...	OMIM:235700
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time,...	ORPHA:49566
Cocaine Intoxication	Hypotension, Bloody diarrhea, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmi...	ORPHA:90068
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ...	ORPHA:3261
Encephalopathy, Ethylmalonic	Failure to thrive, Feeding difficulties, Petechiae, Chronic diarrhea	OMIM:602473
Multiple Endocrine Neoplasia, Type Iib	High palate, Colonic diverticula, Diarrhea, High, narrow palate, Aganglionic megacolon, Constipat...	OMIM:162300
Seckel Syndrome 10	Elevated circulating alanine aminotransferase concentration, Congestive heart failure, Elevated c...	OMIM:617253
Immunodeficiency 9	Recurrent aphthous stomatitis, Hypoplasia of the thymus, Stomatitis, Failure to thrive, Chronic d...	OMIM:612782
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Microvesicular hepatic steatosis, Vomiting, Jaundice, Elevated hepatic transamin...	OMIM:203700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Infectious encephalitis, Skin rash, Jaundice, Elevated hepatic transaminase, ...	OMIM:603553
Familial Glucocorticoid Deficiency	Hypotension, Episodic abdominal pain, Vomiting, Diarrhea, Weight loss, Azoospermia, Failure to th...	ORPHA:361
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Bronchiectasis, Erythema nodosum, Uveitis, Mediastinal lymphaden...	OMIM:612387
Turner Syndrome Due To Structural X Chromosome Anomalies	Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Celiac disease, Primary amen...	ORPHA:99413
Mosaic Monosomy X	Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Celiac disease, Primary amen...	ORPHA:99228
Monosomy X	Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Celiac disease, Primary amen...	ORPHA:99226
Turner Syndrome	Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Celiac disease, Primary amen...	ORPHA:881
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Small for gestationa...	ORPHA:404454
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Hepatomegaly, Failure to thrive in i...	OMIM:612852
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Angioedema, Hereditary, 1	Intestinal edema, Abdominal pain, Vomiting, Diarrhea	OMIM:106100
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Esophageal stricture, Diarrhea, Weight loss, Esophageal ulceration, Bron...	ORPHA:99921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, High palate, Thyroid lymphangiectasia, Ascites, Pulmonary lymphangiectasia, Abdo...	OMIM:235255
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis	OMIM:259730
Nijmegen Breakage Syndrome	Diarrhea, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Premature ovarian insufficiency, ...	OMIM:251260
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Cholelithiasis, Nonspherocytic hemolytic anemia, Congenital hemolytic anem...	ORPHA:3202
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor...	ORPHA:464329
Congenital Disorder Of Glycosylation, Type Im	Vomiting, Diarrhea, Inflammatory abnormality of the skin, Dilated cardiomyopathy, Failure to thri...	OMIM:610768
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Recurrent pneumonia, Colitis, Chronic diarrhea, Failure to thrive in infancy	OMIM:301220
Gray Platelet Syndrome	Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrh...	OMIM:139090
Erythrocytosis, Familial, 1	Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia...	OMIM:133100
Macrocephaly/Autism Syndrome	High palate, Large for gestational age, Lymphopenia, Recurrent otitis media, Hepatomegaly, Obesit...	OMIM:605309
Cockayne Syndrome Type 1	Conjunctivitis, Anemia, Diarrhea, Elevated hepatic transaminase, Hypertension, Uveitis, Male hypo...	ORPHA:90321
Oculoskeletodental Syndrome	Small for gestational age, Macroglossia, Lacunar stroke, Hepatomegaly, Protein-losing enteropathy...	OMIM:618440
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Recurrent pancreatitis, Gastroesophageal reflux, Decreased body weight,...	OMIM:618268
Mucopolysaccharidosis, Type Iiid	Tube feeding, Diarrhea, Macroglossia, Asymmetric septal hypertrophy, Recurrent otitis media, Mitr...	OMIM:252940
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepat...	ORPHA:50918
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Hepatomegaly, Chronic diarrhea, Splenomegaly, Recurrent infection of the gastr...	OMIM:612132
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating nucleated red blood cells,...	OMIM:613673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hypoperistalsis, Nausea and vomiting, Abnormality of the gastrointestinal tract, Microcolon, Abdo...	ORPHA:2241
Gaucher Disease, Perinatal Lethal	Hepatic failure, Anemia, Decreased body weight, Petechiae, Ascites, Purpura, Hepatosplenomegaly, ...	OMIM:608013
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
1P36 Deletion Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Telangiectasia, Abnormality of the liver, Abno...	ORPHA:1606
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Perineal fistula, Anal atresia, Rectal atresia	ORPHA:3016
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Hepatomegaly, Panniculitis, Cleft...	OMIM:612541
Mcleod Syndrome	Acanthocytosis, Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopat...	OMIM:300842
Inhalational Botulism	Constipation, Xerostomia, Diarrhea, Nausea and vomiting	ORPHA:254504
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Gaucher Disease, Type I	Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi...	OMIM:230800
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Diarrhea, Fat malabsorption, Abnormal erythrocyte morphology, Malnutrition...	ORPHA:96180
Osteopetrosis, Autosomal Recessive 4	Anemia, Petechiae, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Hemolytic anemia, Petechiae, Increased mean platelet volume, Bruising susceptibil...	OMIM:153670
Cholera	Hypotension, Vomiting, Aspiration pneumonia, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cr...	ORPHA:173
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Erythroderma, Hypogonadism, Small for gestational age, Malabsorption, Keratoconju...	OMIM:601675
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Panniculitis, Splenomegaly	OMIM:619183
Acute Adrenal Insufficiency	Hypotension, Hypovolemia, Weight loss, Diarrhea, Nausea and vomiting, Normocytic anemia, Abdomina...	ORPHA:95409
Dopamine Beta-Hydroxylase Deficiency	Anemia, Vomiting, Rhinitis, Diarrhea, Retrograde ejaculation, Abnormal EKG, Syncope, Orthostatic ...	ORPHA:230
Hermansky-Pudlak Syndrome 2	Gastroesophageal reflux, Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged pla...	OMIM:608233
Tarp Syndrome	Intrauterine growth retardation, Extramedullary hematopoiesis	ORPHA:2886
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, High palate, Pulmonary lymphangiectasia, Abdominal distention, Hepatosplenomegal...	ORPHA:1655
Familial Hypoaldosteronism	Hypotension, Hypovolemia, Diarrhea, Nausea and vomiting, Failure to thrive, Orthostatic hypotensi...	ORPHA:427
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Cardiomyopathy, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, A...	ORPHA:2131
Niemann-Pick Disease, Type C2	Low cholesterol esterification rate, Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow...	OMIM:607625
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Riddle Syndrome	Telangiectasia, Diarrhea, Weight loss, Arthritis, Abdominal pain, Generalized lymphadenopathy, Re...	ORPHA:420741
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Vomiting, Diarrhea, Feeding difficulties in infancy, Hypertension, Const...	OMIM:223900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Jaundice, Elevated hepatic transaminase, Polycythemia, Hypertrophic car...	ORPHA:309854
Sarcoidosis	Abnormal lymph node morphology, Bronchiectasis, Keratoconjunctivitis sicca, Heart block, Increase...	ORPHA:797
Cerebrotendinous Xanthomatosis	Diarrhea, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction, Cholelithiasis	OMIM:213700
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, High palate, Premature ovarian insufficiency, Female infertility, Amenorrhea	OMIM:110100
Young-Onset Parkinson Disease	Female sexual dysfunction, Diarrhea, Male sexual dysfunction, Constipation, Nausea, Gastroparesis	ORPHA:2828
Multiple Endocrine Neoplasia Type 1	Peptic ulcer, Diarrhea, Impotence, Neoplasm of the pancreas, Hematemesis, Thymoma, Weight loss, A...	ORPHA:652
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of the anus, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, ...	ORPHA:2556
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Hepatic steatosis, Intestinal malrotation, Hypoplasia of the ovary, Leukocytos...	OMIM:619321
Arima Syndrome	Hepatic fibrosis, Cirrhosis, Anemia, Hypertension, Hepatic steatosis, Hepatomegaly, Esophageal varix	OMIM:243910
Scorpion Envenomation	Vomiting, Diarrhea, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, P...	ORPHA:466677
Intellectual Developmental Disorder, Autosomal Dominant 57	Intermittent diarrhea, High palate, Diarrhea, Failure to thrive, Constipation, Otitis media, Feed...	OMIM:618050
Leukocyte Adhesion Deficiency Type Ii	Anemia, Narrow palate, Small for gestational age, Neutrophilia, Recurrent gastroenteritis, Severe...	ORPHA:99843
Chikungunya	Vomiting, Diarrhea, Petechiae, Crusting erythematous dermatitis, Enthesitis, Skin rash, Arthritis...	ORPHA:324625
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated hepatic transaminase, ...	ORPHA:66634
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of th...	ORPHA:447877
Serotonin Syndrome	Hypotension, Hepatic failure, Diarrhea, Hypertension, Nausea, Tachycardia	ORPHA:43116
African Trypanosomiasis	Diarrhea, Impotence, Iritis, Hepatosplenomegaly, Pericarditis, Hepatomegaly, Second degree atriov...	ORPHA:3385
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Insulinoma, Pancreatic islet cell adenoma, Esophagitis, Zollinger-Ellison...	OMIM:131100
Diaphanospondylodysostosis	Abnormal liver lobulation, Enlarged kidney, Cleft palate, Protuberant abdomen	OMIM:608022
Hurler Syndrome	Rhinitis, Angina pectoris, Macroglossia, Hypertension, Hepatomegaly, Chronic diarrhea, Abnormalit...	ORPHA:93473
Hyperparathyroidism, Neonatal Severe	Anemia, Feeding difficulties in infancy, Failure to thrive, Constipation, Hepatomegaly, Splenomegaly	OMIM:239200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Abdominal pain, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik...	OMIM:300908
Cryptogenic Organizing Pneumonia	Cyanosis, Neutrophilia, Hypoxemia, Leukocytosis	ORPHA:1302
Mosaic Trisomy 9	Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, High palate, Intestinal malrotatio...	ORPHA:99776
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancolitis, Failur...	OMIM:618213
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Vomiting, Diarrhea, Skin rash, Left ventricular hypertrophy, Dilated cardiomyopathy, Episodic vom...	OMIM:618321
Colchicine Poisoning	Hypotension, Vomiting, Hypovolemia, Diarrhea, Cardiogenic shock, Congestive heart failure, Nausea...	ORPHA:31824
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Intractable diarrhea	OMIM:609536
Intellectual Developmental Disorder, Autosomal Dominant 35	Pyloric stenosis, Chronic diarrhea	OMIM:616355
19P13.13 Microdeletion Syndrome	Vomiting, High palate, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal ...	ORPHA:357001
Multiple Endocrine Neoplasia Type 2	Hypertension associated with pheochromocytoma, Ganglioneuromatosis, Diarrhea, Aganglionic megacol...	ORPHA:653
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Colon cancer, Adenoma...	ORPHA:454840
Fg Syndrome Type 1	Pulmonary arterial hypertension, Gastroesophageal reflux, High palate, Abnormal large intestine m...	ORPHA:93932
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Chronic diarrhea	ORPHA:100084
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Diarrhea, Capillary fragility, Decreased eosinophil count, Abdomi...	ORPHA:99889
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Elevated hepatic transaminase, Hepatic steatosis, Feeding difficulties, Os...	OMIM:619475
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusit...	OMIM:617765
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ...	OMIM:610199
Immunodeficiency 25	T lymphocytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinop...	OMIM:610163
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Neonatal death, Abdominal distention	OMIM:619362
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Vomiting, Diarrhea, Hypochromic microcytic anemia, Thrombocytopenia, Atopic dermatitis	ORPHA:3240
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia	OMIM:226730
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Hypoxemia, Diabetes mellitus, Leukocytosis	ORPHA:36238
Gaisböck Syndrome	Peptic ulcer, Increased mean corpuscular hemoglobin concentration, Elevated diastolic blood press...	ORPHA:90041
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	High palate, Decreased body weight, Chronic constipation, Decreased hemoglobin concentration, Hep...	OMIM:619005
Multiple Endocrine Neoplasia Type 4	Thymoma, Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Diarrhea, Abnormality o...	ORPHA:276152
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Abdomina...	ORPHA:288
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Abdominal pain, Diarrhea	OMIM:615399
16P13.2 Microdeletion Syndrome	Gastroesophageal reflux, Poor suck, Hypogonadism, Feeding difficulties in infancy, Chronic consti...	ORPHA:500055
Li-Fraumeni Syndrome	Stomach cancer, Acute myeloid leukemia, Colorectal polyposis, Neoplasm of the gastrointestinal tr...	ORPHA:524
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Poor appetite, Abnormal basophil morphology, Thrombocytosis, Leu...	ORPHA:521
Digeorge Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Anemia, High palate, Hypoplasia of the thymus,...	OMIM:188400
Rothmund-Thomson Syndrome	Malar rash, Nasogastric tube feeding in infancy, Vomiting, Anemia, Diarrhea, Small for gestationa...	ORPHA:2909
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Gastroesophageal reflux, Diarrhea, Feeding difficulties in infancy, Constipation	OMIM:608643
Chediak-Higashi Syndrome	Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Spontaneous, recurrent ep...	OMIM:214500
Dyskeratosis Congenita	Anorectal anomaly, Hepatic failure, Cirrhosis, Anemia, Periodontitis, Malabsorption, Neoplasm of ...	ORPHA:1775
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Weight loss, Bronchiectasis, Iridocyclitis, Arthritis, Generaliz...	OMIM:181000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Conjunctivitis, Intestinal perforation, Anemia, Rhinitis, Abnormality of the anus, Diarrhea, Infl...	ORPHA:95455
Ogden Syndrome	Torsade de pointes, Diarrhea, Eczema, Premature atrial contractions, Dysphagia, Thrombocytopenia,...	OMIM:300855
Rothmund-Thomson Syndrome Type 1	Anemia, Vomiting, Telangiectasia, Diarrhea, Hypogonadism, Small for gestational age, Functional a...	ORPHA:221008
Alg9-Cdg	Gastroesophageal reflux, Vomiting, Periportal fibrosis, Villous atrophy, Diarrhea, Enlarged kidne...	ORPHA:79328
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Deeah Syndrome	Narrow palate, Decreased body weight, High palate, Chronic diarrhea, Malabsorption, Chronic const...	OMIM:619004
Felty Syndrome	Neutropenia, Splenomegaly, Rheumatoid arthritis	OMIM:134750
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Aspiration pneumonia, Reduced left ventricular ejection fraction, Malabsor...	ORPHA:581
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Elevated circulating alanine aminotransferase concentration, Ane...	OMIM:611881
Non-Syndromic Anorectal Malformation	Anorectal anomaly, Ectopic anus, Persistent cloaca, Anal atresia, Rectovaginal fistula, Rectouret...	ORPHA:557
Steinert Myotonic Dystrophy	Nasogastric tube feeding in infancy, Diarrhea, Impotence, Feeding difficulties in infancy, Elevat...	ORPHA:273
Immunodeficiency 55	Diarrhea, Eczema, Lymphopenia, Lymphadenopathy, Recurrent skin infections, Neutropenia, Absent na...	OMIM:617827
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter...	ORPHA:231154
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Hepatic fibrosis, Anemia, Bacterial endocarditis, Spontaneous, r...	ORPHA:2072
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Jaundice, Congestive heart failure, Failure to thrive, Chole...	OMIM:615512
Glycogen Storage Disease Ii	Right axis deviation, Cardiomegaly, Sinus tachycardia, Wolff-Parkinson-White syndrome, Macrogloss...	OMIM:232300
Microphthalmia, Syndromic 1	High palate, High, narrow palate, Aganglionic megacolon, Pyloric stenosis, Anal atresia, Recurren...	OMIM:309800
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Gastroesophageal reflux, Abnormal T cell subset distribution, Reduced natural killer cell count, ...	ORPHA:221139
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio...	ORPHA:75565
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Corneal neovascularization, Chronic mucocutaneous candidiasis, Recurrent pn...	OMIM:158310
Visceral Steatosis, Congenital	Hepatic steatosis, Jaundice, Neonatal death, Abnormal bleeding	OMIM:228100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Cirrhosis, Microvesicular hepatic steatosis, High palate, Large for ges...	OMIM:300868
Familial Thrombocytosis	Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Weight loss, Transien...	ORPHA:71493
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Secretory diarrhea, Abdominal distention, Elevated stool chloride content	OMIM:214700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Vomiting, Small for gestational age, Left ventricular hypertrop...	OMIM:220111
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Inflammatory abnormality of the skin, Angina pectoris, Abnormal circulating enzyme ...	ORPHA:565612
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Diarrhea, Autoimmune hemolytic anemia, Nausea and vomiting	ORPHA:90035
Sitosterolemia 1	Stomatocytosis, Anemia, Arthritis, Abdominal pain, Abnormal bleeding, Reticulocytosis, Episodic h...	OMIM:210250
Bannayan-Riley-Ruvalcaba Syndrome	Telangiectasia, Narrow palate, Abnormal large intestine morphology, Subcutaneous hemorrhage, Cach...	ORPHA:109
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Acute pancreatitis, Hypertension, Hepatomegaly	OMIM:151660
Mismatch Repair Cancer Syndrome 3	Colon cancer, Neoplasm of the rectum	OMIM:619097
Gitelman Syndrome	Abnormal T-wave, Tubulointerstitial nephritis, Diarrhea, Nausea and vomiting, Neoplasm of the pan...	ORPHA:358
Elliptocytosis 1	Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly	OMIM:611804
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Proteasome-Associated Autoinflammatory Syndrome 1	Chronic constipation, Elevated hepatic transaminase, Recurrent sinusitis, Parotitis, Hepatomegaly...	OMIM:256040
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Colon perfo...	OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Patent ductus arteriosus, Biliary atresia, Intermittent diarrhea, Aplasia/...	ORPHA:2255
Diarrhea 10, Protein-Losing Enteropathy Type	Feeding difficulties, Secretory diarrhea, Protein-losing enteropathy, Ascites, Hematochezia	OMIM:618183
Nijmegen Breakage Syndrome	Anorectal anomaly, Hemolytic anemia, Cachexia, Anal atresia, Autoimmune hemolytic anemia, Recurre...	ORPHA:647
Ataxia-Telangiectasia	Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Decre...	OMIM:208900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pulmonary arterial hypertension, Gastroesophageal reflux, Patent ductus arteriosus, High palate, ...	ORPHA:280633
Meconium Ileus	Meconium ileus, Microcolon	OMIM:614665
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Purpura, Hypertension, Reticulocytosis, Schistocytos...	OMIM:235400
Atypical Werner Syndrome	Decreased fertility, Decreased body weight, Hypogonadism, Secondary amenorrhea, Premature ovarian...	ORPHA:79474
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	High palate, Cleft soft palate, Ischemic stroke, Poor suck, Hemolytic anemia, Chronic constipatio...	OMIM:619503
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea, Seborrheic dermatitis, Acne	OMIM:614441
Blau Syndrome	Pulmonary arterial hypertension, Anemia, Abnormality of the liver, Iridocyclitis, Large vessel va...	ORPHA:90340
Rothmund-Thomson Syndrome Type 2	Anemia, Vomiting, High palate, Diarrhea, Small for gestational age, Functional abnormality of the...	ORPHA:221016
Hellp Syndrome	Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased ...	ORPHA:244242
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Ectodermal Dysplasia-Skin Fragility Syndrome	Chronic diarrhea, Failure to thrive, Recurrent pneumonia, Abnormal tongue morphology, Cheilitis, ...	ORPHA:158668
Orofaciodigital Syndrome Type 4	Rectovaginal fistula, Bifid uvula, Submucous cleft hard palate, Anal atresia, Failure to thrive, ...	ORPHA:2753
Lipodystrophy, Familial Partial, Type 7	Pulmonary arterial hypertension, Recurrent pancreatitis, Vomiting, Diarrhea, Small for gestationa...	OMIM:606721
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Diarrhea, Weight loss	ORPHA:424
Proximal Renal Tubular Acidosis	Vomiting, Hypovolemia, Diarrhea, Malabsorption, Failure to thrive	ORPHA:47159
Alström Syndrome	Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomer...	ORPHA:64
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea	ORPHA:457279
Porphyria, Congenital Erythropoietic	Conjunctivitis, Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal copropo...	OMIM:263700
Mandibuloacral Dysplasia Progeroid Syndrome	High palate, Elevated hepatic transaminase, Left ventricular hypertrophy, Mitral regurgitation, E...	OMIM:619127
Pneumocystosis	Abnormal neutrophil count, Hypoxemia	ORPHA:723
Zttk Syndrome	Absent gallbladder, Patent ductus arteriosus, High palate, Feeding difficulties in infancy, Bifid...	OMIM:617140
Japanese Encephalitis	Vomiting, Diarrhea, Abdominal pain, Neutrophilia, Anorexia, Infectious encephalitis	ORPHA:79139
Dubowitz Syndrome	Gastroesophageal reflux, High palate, Feeding difficulties in infancy, Velopharyngeal insufficien...	OMIM:223370
Mucopolysaccharidosis Type 2, Severe Form	Chronic diarrhea, Increased size of nasopharyngeal adenoids, Heart murmur, Arthritis, Enlarged to...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Chronic diarrhea, Increased size of nasopharyngeal adenoids, Heart murmur, Arthritis, Enlarged to...	ORPHA:217093
Biliary, Renal, Neurologic, And Skeletal Syndrome	Biliary cirrhosis, Cardiac arrest, Hepatomegaly, Splenomegaly, Congenital hepatic fibrosis, Tricu...	OMIM:619534
Distal Renal Tubular Acidosis	Vomiting, Diarrhea, Hemolytic anemia, Poor appetite, Failure to thrive, Constipation	ORPHA:18
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Aortic regurgitation, Chronic diarrhea, Thrombocytopenia, Obesity	OMIM:620072
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, A...	ORPHA:77293
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea, Seborrheic dermatitis, Acne	OMIM:167100
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea	OMIM:300953
Omphalocele Syndrome, Shprintzen-Goldberg Type	Gastroesophageal reflux, Anal atresia, Feeding difficulties in infancy, Chronic diarrhea	ORPHA:3164
Mucopolysaccharidosis Type 2	Chronic diarrhea, Hip osteoarthritis, Enlarged tonsils, Macroglossia, Hypertension, Hepatomegaly,...	ORPHA:580
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Chronic diarrhea, Heart murmur, Ankyloglossia, Enlarged kidney, Episodic...	OMIM:615873
Aspartylglucosaminuria	Diarrhea, Macroglossia, Mitral regurgitation, Hepatomegaly, Neutropenia, Vacuolated lymphocytes, ...	OMIM:208400
Carney Complex	Neoplasm of the stomach, Abnormal sperm motility, Tongue nodules, Esophageal neoplasm, Neoplasm o...	ORPHA:1359
Wiedemann-Rautenstrauch Syndrome	Synovitis, Recurrent otitis media, Hepatic steatosis, Failure to thrive, Submucous cleft soft pal...	ORPHA:3455
Homozygous Familial Hypercholesterolemia	Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Hepatic steatosis, Supravalvul...	ORPHA:391665
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H...	ORPHA:572333
Viss Syndrome	Bifid tongue, Cleft soft palate, Chronic constipation, Bifid uvula, Eczema, Submucous cleft soft ...	OMIM:619472
Bartter Syndrome, Type 1, Antenatal	Vomiting, Diarrhea, Small for gestational age, Low-to-normal blood pressure, Failure to thrive, C...	OMIM:601678
Sacral Defect With Anterior Meningocele	Rectal abscess, Constipation	OMIM:600145
Pmm2-Cdg	Hepatic fibrosis, Vomiting, High palate, Aspiration pneumonia, Impaired neutrophil chemotaxis, El...	ORPHA:79318
Bartter Syndrome, Type 2, Antenatal	Vomiting, Diarrhea, Small for gestational age, Low-to-normal blood pressure, Failure to thrive, C...	OMIM:241200
Occipital Horn Syndrome	High palate, Bruising susceptibility, Chronic diarrhea, Orthostatic hypotension, Hiatus hernia	OMIM:304150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Gastroesophageal reflux, Patent ductus arteriosus after birth at term, Chroni...	ORPHA:500150
Superficial Siderosis	Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma	ORPHA:247245
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Abnormal circulating enzyme concentration or activit...	ORPHA:909
Penile Agenesis	Tracheoesophageal fistula, Anorectal anomaly, Anal atresia, Rectal fistula	ORPHA:49
Nmda Receptor Encephalitis	Orthostatic hypotension, Neoplasm of the thymus, Vomiting, Diarrhea	ORPHA:217253
Restrictive Dermopathy	Patent ductus arteriosus, Microcolon, Submucous cleft hard palate	ORPHA:1662
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Abnormal bleeding, Hypertension, Internal hemorrhage, Bruising suscept...	ORPHA:286

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 Krt8

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 Krt8.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Krt83^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Krt83^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Krt83^{tm1b(KOMP)Wtsi}	PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Krt83^{tm1b(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Krt8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Krt8^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Krt8^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Krt8^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Krt8^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Krt8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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Gene: Krt8 MGI:96705

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Krt8 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data