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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
decreased exploration in new environment	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.71×10^-05
increased neutrophil cell number	Krt8^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.38×10^-05
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
preweaning lethality, complete penetrance	Krt8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

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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 Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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 (1073 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	Hematochezia, Stercoral ulcer, Anal fissure, Bloody diarrhea, Tenesmus, Chronic constipation, Dec...	ORPHA:209964
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre...	ORPHA:2869
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Lack of bowel...	ORPHA:100093
Diarrhea 13	Vomiting, Elevated circulating hepatic transaminase concentration, Secretory diarrhea, Failure to...	OMIM:620357
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Bronchiectasis, Exocrine pan...	OMIM:219700
Coproporphyria, Hereditary	Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia...	OMIM:112200
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas...	OMIM:174900
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Hepatic periportal necro...	ORPHA:139507
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain	ORPHA:33402
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ...	ORPHA:75234
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hep...	OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Increased circulating lactate dehydrogenase concentration, Vomiting, Microangiopathic h...	ORPHA:90038
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Neoplasm of th...	OMIM:175200
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh...	OMIM:231100
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia	ORPHA:52416
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Acute hepatic failure, Splen...	OMIM:620151
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for...	OMIM:613217
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf...	OMIM:606528
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Failure to t...	ORPHA:79319
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm...	ORPHA:3032
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina...	OMIM:231530
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, A...	ORPHA:71
Hepatoportal Sclerosis	Hypersplenism, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascites, Intrahepatic por...	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomit...	ORPHA:298
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain	OMIM:260005
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Eleva...	OMIM:618805
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper...	ORPHA:251992
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Trichohepatoenteric Syndrome 2	Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepa...	OMIM:614602
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Abnormal circulating enzyme concentration ...	ORPHA:103907
Cystic Fibrosis	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Decreased body ...	ORPHA:586
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Obesity, Azoospermia, Hepatic steatosis, Oligozoospermia, Infertility, ...	OMIM:615703
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Failure to thriv...	ORPHA:71212
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Feeding difficulties, Weight loss...	OMIM:620045
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	OMIM:618963
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Failure to thrive, Pancytopenia, Hepatic steatosis, Hepatomegaly, Hype...	OMIM:617872
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo...	ORPHA:160148
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade...	ORPHA:424016
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Failure to thrive, Abdominal colic, Abdominal pain, ...	ORPHA:35122
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Cirrhosis, Hepatom...	ORPHA:264580
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail...	ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Congestive heart failure, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Villous atrophy, Abno...	ORPHA:95427
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy	OMIM:615863
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaire...	OMIM:269840
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Failure to thri...	OMIM:602579
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int...	ORPHA:388
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Trehalase Deficiency	Diarrhea, Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Abdomin...	ORPHA:103909
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Bloody diarrhea, Feeding difficul...	OMIM:615119
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop...	OMIM:619164
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Failure to thrive, Hemophagocytosis, Hepatosplenomeg...	OMIM:619858
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phospho...	OMIM:261750
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti...	ORPHA:2070
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct...	OMIM:616829
Galactosemia Iii	Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali...	ORPHA:3386
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse, Feeding difficulties	OMIM:619793
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 27A	Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma...	OMIM:209950
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephaliti...	ORPHA:99745
Galactosemia I	Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Elevated circulating aspartate a...	OMIM:230400
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100025
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Cachexia...	ORPHA:75233
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen...	OMIM:615285
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple...	ORPHA:2930
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ...	OMIM:613490
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho...	OMIM:616100
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Hepatosplen...	ORPHA:79333
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Hypertrophic cardiomyopathy, Elevate...	OMIM:614582
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Elevated circulating alkaline phosphat...	ORPHA:98850
Autoinflammation With Infantile Enterocolitis	Diffuse alveolar hemorrhage, Reduced natural killer cell count, Secretory diarrhea, Failure to th...	OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega...	OMIM:612714
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni...	OMIM:243150
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin...	OMIM:619868
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c...	OMIM:619463
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive heart failure, Prot...	ORPHA:67
Ddost-Cdg	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri...	ORPHA:300536
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Failure to thrive, Elevated ci...	OMIM:615595
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni...	ORPHA:397596
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss...	ORPHA:85450
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Elevated cir...	ORPHA:2137
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea	OMIM:251850
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:605911
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Patent Ductus Venosus	Persistent patent ductus venosus, Hepatic steatosis, Congenital portosystemic venous shunt, Decre...	OMIM:601466
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Immunodeficiency 7	Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive in infancy, ...	ORPHA:858
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic car...	OMIM:212140
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Anemia, Osteoarthritis, Hepatomegaly, I...	OMIM:606069
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ...	ORPHA:436159
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti...	ORPHA:26790
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep...	ORPHA:99828
Rabies	Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia	ORPHA:770
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Increased circulatin...	ORPHA:26791
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Congestive heart failure, H...	ORPHA:70472
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Short Chain Acyl-Coa Dehydrogenase Deficiency	Feeding difficulties, Failure to thrive, Hepatic steatosis, Cardiomyopathy	ORPHA:26792
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Primary Myelofibrosis	Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ...	ORPHA:824
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent infect...	OMIM:615207
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting...	ORPHA:44890
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Cervical ...	OMIM:142680
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Neonatal chol...	OMIM:214900
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:612840
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Immunodeficiency, Common Variable, 1	Pneumonia, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenome...	OMIM:607594
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati...	OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gast...	ORPHA:33276
Neuroendocrine Tumor Of Stomach	Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepatomegaly, Right ventricular ...	ORPHA:100075
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Oligomenorrhea, Infertility, Hypertension	ORPHA:280356
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Elevated total serum tryptase, Diarrhea, Vomiting, Maln...	ORPHA:79456
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Folli...	OMIM:240500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu...	OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to thrive secondary to recurrent inf...	ORPHA:169160
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func...	ORPHA:42
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Mal...	ORPHA:79239
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly	OMIM:612526
Graft Versus Host Disease	Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Elevated ci...	ORPHA:39812
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Reduced natural killer cell count, Failure to thri...	OMIM:618108
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I...	OMIM:615710
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Diarrhea, Weight loss, Abdominal distention, Anorexia, ...	ORPHA:100085
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Chol...	OMIM:608104
Adrenomyodystrophy	Abnormal intestine morphology, Hepatic steatosis, Failure to thrive	ORPHA:977
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi...	OMIM:617021
Leigh Syndrome, Nuclear	Failure to thrive, Hepatocellular necrosis	OMIM:256000
Sandhoff Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Abnormal glycosphingolipid metabolism,...	ORPHA:796
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis, Intestinal polyposis, Lymphoid nodular hyperplasia	ORPHA:210548
Immunodeficiency, Common Variable, 11	Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, C...	OMIM:615767
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Neonatal cholestatic liver disease, Splenomegal...	ORPHA:1414
Autosomal Agammaglobulinemia	Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ...	ORPHA:33110
Medullary Thyroid Carcinoma	Diarrhea, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:1332
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr...	ORPHA:398063
Attrv30M Amyloidosis	Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Constipa...	ORPHA:85447
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Enteric Anendocrinosis	Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension	ORPHA:83620
Chylomicron Retention Disease	Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe...	OMIM:246700
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Elevated circulating hepatic transaminase concentration...	ORPHA:90062
Mednik Syndrome	Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, C...	OMIM:609313
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascite...	OMIM:226300
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Nausea, Hepatomegaly, J...	OMIM:231680
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulating alkaline p...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr...	OMIM:614921
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med...	ORPHA:229717
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, T lymphocytopenia, Hypoplasia of th...	OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph node germin...	ORPHA:277
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology...	ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Trimethylaminuria	Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s...	OMIM:618234
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage	OMIM:277175
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hypertension, Hepatic steatosis	ORPHA:79084
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Feeding difficulties, Abnormal glycosphingolipid metabolism	OMIM:611721
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:619386
Reticular Dysgenesis	Diarrhea, Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Skin ra...	ORPHA:33355
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Vil...	OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Otit...	OMIM:601457
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
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 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
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
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Hepatitis, Vomiting...	ORPHA:319218
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention	ORPHA:103910
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:86893
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia...	OMIM:235510
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption, Decreased mucosal sucrase-isomaltase activity	OMIM:222900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malab...	OMIM:209920
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume...	OMIM:127550
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Ileal Neuroendocrine Tumor	Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu...	ORPHA:100078
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L...	OMIM:614162
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Familial Chylomicronemia Syndrome	Pulmonary embolism, Failure to thrive, Hepatosplenomegaly, Nausea and vomiting, Hepatic steatosis...	ORPHA:444490
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Recurrent pneumonia, Gastroesophageal reflux, Ascites, Right ventricular hypert...	OMIM:613177
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Neuroendocrine Neoplasm Of Appendix	Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Hepatomegaly, Midgut m...	ORPHA:100079
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic failure, Microve...	OMIM:613070
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Abnormal lymph no...	ORPHA:911
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Diarrhea, Uveitis, Anorexia, Malabsorption, Splenomegal...	ORPHA:3452
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticuloc...	OMIM:618278
Alpha-Thalassemia	Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa...	ORPHA:846
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Anorexia, Abdominal pain, Purpura, Intestinal per...	ORPHA:810
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti...	OMIM:603041
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Malabsorption, ...	ORPHA:47
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic...	OMIM:615895
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate...	OMIM:255120
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Diarrhea, Inflammator...	ORPHA:79332
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in...	ORPHA:247585
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe...	OMIM:617638
Caspase 8 Deficiency	Pneumonia, Failure to thrive, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Lymph...	OMIM:607271
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Diarrhea, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Accessory spleen, Vomiting, Failure to thrive, Polysplenia, Failure to...	OMIM:619418
Sepsis In Premature Infants	Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Jaundice, Tachy...	ORPHA:90051
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity, Intermittent diarrhea, Feeding difficulties	OMIM:620270
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of the menstrual cycle, Spleno...	ORPHA:721
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Ppoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra...	ORPHA:97278
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Immunodeficiency 19	Abnormal B cell morphology, Failure to thrive, Abnormal natural killer cell morphology, Recurrent...	OMIM:615617
Proprotein Convertase 1/3 Deficiency	Diarrhea, Obesity, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:600955
Boutonneuse Fever	Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphaden...	ORPHA:83313
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pulmonary hemorrhage, Pancy...	ORPHA:79124
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, D...	ORPHA:79322
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, A...	OMIM:212750
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo...	OMIM:613101
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr...	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Neonatal death	OMIM:615918
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Cold Agglutinin Disease	Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Dubowitz Syndrome	Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Malabsorption, Acute lymphoblas...	ORPHA:235
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly	ORPHA:77260
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Vomiting, Failure to...	OMIM:615486
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abn...	OMIM:613501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Prolonged bleeding following proced...	ORPHA:79259
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Constipation, Dysphagia, Reduced beta-hexosaminidase activity	ORPHA:309162
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi...	OMIM:619375
Harderoporphyria	Increased fecal harderoporphyrin, Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonge...	OMIM:618892
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis	OMIM:614328
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Abnormal CD4:CD8 ratio, Failure to thrive, Chronic mucocutaneous candidiasis, Protracte...	ORPHA:572
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatosplenomegaly, H...	OMIM:619013
Congenital Macroglossia	Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Leprechaunism	Megarectum, Failure to thrive, Hypertrophic cardiomyopathy, Decreased body weight, Enlarged ovari...	ORPHA:508
Immunodeficiency 115 With Autoinflammation	Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, T lymphocytopenia, Superficial ...	OMIM:620632
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Uveitis, Congestive heart failure, ...	ORPHA:727
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d...	OMIM:619510
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to t...	OMIM:212065
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta...	OMIM:610198
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the...	OMIM:603554
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa...	OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun...	ORPHA:276
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Lipodystrophy, Familial Partial, Type 4	Oligomenorrhea, Hypertension, Hepatic steatosis	OMIM:613877
Peritoneal Cystic Mesothelioma	Metrorrhagia, Peritonitis, Weight loss, Constipation, Dyspareunia, Abdominal distention, Abdomina...	ORPHA:168816
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Vomiting, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chain ac...	OMIM:201450
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Paralytic ileus, Nausea, Abdominal pain, Constipation, Reduced erythrocyte po...	OMIM:176000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru...	ORPHA:37042
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:369840
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Membranoproliferative glomerulonephritis	OMIM:608709
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Brunner Syndrome	Diarrhea	OMIM:300615
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Weight loss, Acute myeloid leukemia, Neutrophilia, Hepatome...	ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F...	OMIM:229050
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, Hepatic steatosis	OMIM:615996
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ...	OMIM:618852
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cerebral ischemia, Reye syndrome-like episodes, Hepatomega...	ORPHA:927
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Atrophic gastri...	OMIM:615846
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee...	OMIM:619971
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt...	ORPHA:231222
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter...	ORPHA:330001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Anemia, Pancreati...	ORPHA:79312
Obesity Due To Sim1 Deficiency	Memory impairment, Hyperinsulinemia, Glucose intolerance, Attention deficit hyperactivity disorde...	ORPHA:369873
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Diarrhea, Vomiting, Bruising susceptibility, Erysipelas, Fasciitis, Leukocyt...	ORPHA:32960
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea...	OMIM:618394
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Diarrhea, Skin rash	OMIM:601979
Grfoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra...	ORPHA:97261
Lassa Fever	Menometrorrhagia, Diarrhea, Abnormal bleeding, Shock, Nausea and vomiting, Abdominal pain, Conjun...	ORPHA:99824
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Congenital Generalized Lipodystrophy	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Amen...	ORPHA:528
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul...	ORPHA:91547
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Feeding difficulties	OMIM:615010
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien...	OMIM:607906
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Feeding difficul...	OMIM:301056
Somatostatinoma	Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra...	ORPHA:97283
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Gastrointestinal infarction...	ORPHA:91138
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting, Pancreatitis	OMIM:620137
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Diarrhea...	OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei...	ORPHA:677
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231226
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, ...	ORPHA:549
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Failure to ...	OMIM:617093
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin...	ORPHA:342
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Dracunculiasis	Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation	ORPHA:231
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep...	ORPHA:391
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Hepatitis, Failure to thrive, Absence of lymph node germinal center, Hemolytic anemia, ...	OMIM:308230
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly, Abdominal pai...	ORPHA:465508
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Pancrea...	OMIM:251000
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz...	OMIM:242700
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Neuromuscular dysphagia, Abnormal bleeding, Cardiogeni...	ORPHA:449285
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Wei...	OMIM:619381
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly...	ORPHA:2414
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Elevated circulating al...	OMIM:239300
Combined Malonic And Methylmalonic Acidemia	Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Nasogastric...	ORPHA:289504
Yao Syndrome	Uveitis, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss, Kera...	OMIM:617321
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Chronic otitis media, Bruising susceptibility, Leuko...	ORPHA:3226
Glucagonoma	Diarrhea, Acanthocytosis, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hep...	ORPHA:97280
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Pancytopenia, Leukope...	ORPHA:507
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Primary Ciliary Dyskinesia	Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Intestinal malrotation,...	ORPHA:244
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent...	OMIM:619281
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa...	OMIM:619487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Lymphopenia, ...	OMIM:602450
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Hypocomplementemic Urticarial Vasculitis	Uveitis, Diarrhea, Conjunctivitis, Ascites, Nausea and vomiting, Splenomegaly, Episcleritis, Skin...	ORPHA:36412
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia...	OMIM:240300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in...	OMIM:606367
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr...	ORPHA:2348
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Epistaxis, Menometrorrhagia, Gastroesophageal reflux, Bruising susceptibilit...	ORPHA:285
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre...	OMIM:619652
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted...	ORPHA:97287
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic...	ORPHA:228305
Alg1-Cdg	Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin...	ORPHA:79327
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ...	OMIM:614300
Omenn Syndrome	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia,...	ORPHA:39041
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Diarrhea, Hepatitis, Failure to thrive, Nausea and vomiting, Macr...	ORPHA:199299
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Diarrhea, Sinus tachycardia, Failure to ...	ORPHA:525731
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation...	ORPHA:499009
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Decrea...	OMIM:615607
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, C...	ORPHA:36426
Rat-Bite Fever	Diarrhea, Vomiting, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Abdominal asep...	ORPHA:31205
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertension, Hepatic steatosis, Irregular menstruation	OMIM:615238
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Large for gestationa...	ORPHA:263455
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Pustule, Hypertension	OMIM:616069
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Elevated cir...	OMIM:620376
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Chronic Granulomatous Disease	Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory ...	ORPHA:379
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he...	OMIM:212138
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Mi...	ORPHA:2959
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Vomiting, Diarrhea, Failure to thrive, Decreased methionine synthase activity, Megaloblastic anem...	OMIM:250940
Immunodeficiency 46	Failure to thrive, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis, Chronic diarrhe...	OMIM:616740
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, A...	ORPHA:79325
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
Necrotizing Enterocolitis	Hypotension, Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea, Shock, Ascites, Hypoactiv...	ORPHA:391673
Mucopolysaccharidosis, Type Iiib	Diarrhea, Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepa...	OMIM:252920
Hereditary Mixed Polyposis Syndrome	Hematochezia, Abnormal bleeding, Colon cancer, Refractory anemia, Adenomatous colonic polyposis, ...	ORPHA:157794
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato...	ORPHA:231214
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati...	ORPHA:436252
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Arrhythmia, Neutropenia, Hepatomegaly, Heart block, Abnormality of...	ORPHA:398124
Monosomy 13Q34	Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Metrorrhagia, Prolonged prothrombin time, Pu...	ORPHA:96168
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Hypogonadism, Splenomegaly, Low alkaline phosphatase, Hepatomegaly, ...	OMIM:201100
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombo...	ORPHA:108
Malonyl-Coa Decarboxylase Deficiency	Diarrhea, Dilated cardiomyopathy, Vomiting, Reduced malonyl-CoA decarboxylase activity in culture...	OMIM:248360
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Bruising susc...	ORPHA:540
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase ac...	OMIM:210200
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Feeding difficulties	OMIM:615085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Te...	OMIM:615381
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami...	OMIM:170100
Aa Amyloidosis	Hypotension, Vomiting, Malnutrition, Cholestasis, Malabsorption, Abdominal pain, Hepatomegaly, Na...	ORPHA:85445
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Anemia, Weight los...	ORPHA:1842
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Villous atrophy, Malabso...	OMIM:557000
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Diarrhea, Failure to thrive, Eczematoid dermatitis, Recurrent infection of the gastroi...	ORPHA:83471
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat...	ORPHA:247598
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Prolonged bleeding time, Bruising susceptibility, Vomiting, Arterial rup...	ORPHA:287
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, L...	OMIM:618935
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea...	OMIM:301074
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Abnormal circulating enzyme concentration or activity...	ORPHA:100924
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegal...	OMIM:620603
Malakoplakia	Diarrhea, Abnormal bleeding, Inflammatory abnormality of the skin, Urinary bladder inflammation, ...	ORPHA:556
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Vasculitis, Bl...	OMIM:617718
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomiting, Eosinoph...	ORPHA:90045
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat...	ORPHA:464321
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, V...	OMIM:269920
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, F...	ORPHA:1572
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Diarrhea, Vomiti...	OMIM:608836
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Dysphagia, Feedi...	ORPHA:35708
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small ...	ORPHA:2929
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodos...	ORPHA:99827
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Fai...	ORPHA:14
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegal...	OMIM:619824
Hereditary Spherocytosis	Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c...	ORPHA:822
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hepatic steatosis, Abdominal obesity	OMIM:615980
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Oligomenorrhea, Primary amenorrhea, Hypertension	OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hypertension, Hepatic steatosis	ORPHA:363400
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ...	ORPHA:2538
Amyloidosis, Hereditary Systemic 2	Cholestasis, Skin rash, Splenomegaly, Hepatomegaly, Hypertension	OMIM:105200
Zygomycosis	Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Neutropenia, Abdominal pain, End...	ORPHA:73263
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Maculopapular Cutaneous Mastocytosis	Vomiting, Diarrhea, Elevated total serum tryptase, Abdominal pain, Nausea	ORPHA:79457
Biotinidase Deficiency	Vomiting, Diarrhea, Splenomegaly, Skin rash, Feeding difficulties in infancy, Seborrheic dermatit...	OMIM:253260
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Abnormal ery...	ORPHA:324636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Constipation, H...	ORPHA:163746
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina...	ORPHA:188
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Cholestasis, ...	OMIM:620233
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br...	ORPHA:729
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea, Dysphagia, Hypergonadotropic hypogonadism, ...	ORPHA:352447
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:158057
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Oligomenorrhea, Pancreatitis, Hepatic steatosis	ORPHA:435651
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic...	OMIM:617941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Severe B lymphocytopenia, Diarrhea, Inflammatory abnormality of the skin, Failure to t...	OMIM:102700
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Abnormal circulating...	ORPHA:348
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Increased circulating lactate dehydrogenase co...	ORPHA:93552
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Nephritis, Malar rash, Chronic noninfectious lymphadenop...	OMIM:603909
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Monocytosis, Chronic diarrhea, Chronic oral...	OMIM:615592
Williams Syndrome	Nausea and vomiting, Mitral regurgitation, Abdominal pain, Rectal prolapse, Chronic otitis media,...	ORPHA:904
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Congestive heart failure, Recurrent...	OMIM:309900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:231393
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa...	ORPHA:35078
Congenital-Onset Steinert Myotonic Dystrophy	Gastroesophageal reflux, Diarrhea, Bundle branch block, Obesity, Encopresis, Decreased body weigh...	ORPHA:589821
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Reduced...	ORPHA:542323
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Hyper-Igd Syndrome	Vomiting, Diarrhea, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Lym...	OMIM:260920
Glutaric Aciduria Iii	Diarrhea, Vomiting, Failure to thrive, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase act...	OMIM:231690
Cutaneous Mastocytoma	Hypotension, Diarrhea, Telangiectasia macularis eruptiva perstans, Elevated total serum tryptase,...	ORPHA:79455
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Leukemia, Normoc...	ORPHA:33226
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in...	ORPHA:3260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa...	ORPHA:331206
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentra...	ORPHA:54057
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Gastroesophageal reflux, Failure to thrive, Eczematoid dermatitis, Obesity, High palate, Rectal p...	OMIM:617157
Lujo Hemorrhagic Fever	Diarrhea, Lymphopenia, Excessive bleeding after a venipuncture, Dysphagia, Purpura, Increased cir...	ORPHA:319213
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti...	ORPHA:391487
Mucopolysaccharidosis, Type Iiia	Diarrhea, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Splenomegaly, Hepatomegal...	OMIM:252900
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatome...	OMIM:614922
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Failure t...	OMIM:613989
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Failure to thrive, Hepatic steatosis, Reduced cystathionine beta-synthase activity in cultured fi...	OMIM:236200
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio...	ORPHA:707
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly...	ORPHA:33577
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ...	ORPHA:486
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Po...	OMIM:613385
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Dia...	ORPHA:20
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Vomiting, F...	OMIM:229600
Mucopolysaccharidosis, Type Iiic	Diarrhea, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal fibrosis, Failure to t...	OMIM:605814
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Ankyloglossia, Recurrent otitis medi...	OMIM:619525
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Small for gesta...	OMIM:613658
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia	ORPHA:178029
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate	OMIM:601110
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chronic mucocutane...	ORPHA:98813
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:37748
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Fe...	OMIM:614924
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Vomiting, Diarrhea, Failure to thrive	OMIM:560000
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal...	OMIM:263200
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice, Reduced...	OMIM:224100
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Oligomenorrhea, Hepatic steatosis	ORPHA:79085
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach cancer, Na...	ORPHA:440437
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Abdominal pa...	ORPHA:85414
Adiposis Dolorosa	Diarrhea, Xerostomia, Bruising susceptibility, Obesity, Telangiectasia of the skin, Constipation,...	ORPHA:36397
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure	OMIM:619431
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Right ventricula...	ORPHA:90363
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Avian Influenza	Pneumonia, Myelitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Increased...	ORPHA:454836
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Bacterial Toxic-Shock Syndrome	Diarrhea, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Shock, Oste...	ORPHA:36234
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increa...	OMIM:617099
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno...	OMIM:612692
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Intracranial hemorrhage, Splenomegaly, Neonatal death, T...	ORPHA:85212
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Macroglossia, Chronic dia...	OMIM:618523
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu...	ORPHA:906
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Malabsorption, Protrud...	OMIM:242860
Mirage Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Leukopenia, Petechiae, Decreased body...	OMIM:617053
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi...	ORPHA:90362
Williams-Beuren Syndrome	Colonic diverticula, Gastroesophageal reflux, Failure to thrive in infancy, Recurrent otitis medi...	OMIM:194050
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Anemia, Eosinoph...	OMIM:226990
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnorm...	ORPHA:699
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascites, Osteomyel...	OMIM:306400
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Hyp...	ORPHA:2290
Spontaneous Periodic Hypothermia	Arrhythmia, Diarrhea, Nausea and vomiting, Skin rash	ORPHA:29822
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Failure to thrive, Poor suck	OMIM:619518
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, He...	ORPHA:809
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Aregenerative Anemia	Depression, Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:101096
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Rectal abscess, Recurrent otitis media, Recurrent sinusit...	OMIM:601495
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Methanol Poisoning	Diarrhea, Vomiting, Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage...	ORPHA:31825
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Blue Diaper Syndrome	Increased body weight, Diarrhea, Elevated circulating hepatic transaminase concentration	ORPHA:94086
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite	ORPHA:2221
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc...	ORPHA:49827
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc...	ORPHA:99826
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Erythroderma Desquamativum	Seborrheic dermatitis, Diarrhea, Failure to thrive	ORPHA:314
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Fabry Disease	Diarrhea, Vomiting, Tenesmus, Congestive heart failure, Transient ischemic attack, Angina pectori...	OMIM:301500
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal...	ORPHA:158029
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Rapadilino Syndrome	High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate	OMIM:266280
Sandhoff Disease	Hepatosplenomegaly, Abnormal glycosphingolipid metabolism, Cardiomegaly, Episodic abdominal pain,...	OMIM:268800
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia...	OMIM:615122
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Failure to thrive...	ORPHA:746
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Cirrhosis, Anorexia, Hepatome...	ORPHA:77259
Immunodeficiency, Common Variable, 7	Chronic diarrhea, Splenomegaly	OMIM:614699
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Hepatome...	OMIM:615688
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Vomiting, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Hepat...	ORPHA:436271
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cong...	OMIM:617156
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Bloody diarrhea, Lymphopenia, Abnor...	ORPHA:84064
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, H...	ORPHA:186
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Lysinuric Protein Intolerance	Diarrhea, Vomiting, Failure to thrive, Hemophagocytosis, Malnutrition, Pulmonary hemorrhage, Leuk...	OMIM:222700
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles...	OMIM:261515
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Splenomegaly, Petechiae, Anemia, Vasculitis in the skin, Hepatomegaly, ...	OMIM:620296
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Diarrhea, Vomiting, Nausea, Chronic hepatic failure, ...	ORPHA:469
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Pyoderma, Infectious encephal...	OMIM:307200
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc...	OMIM:259720
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Nausea and vomiting, Petechiae, Splenomegaly, Lymphadenopathy, Ne...	ORPHA:79477
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H...	ORPHA:158061
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Hepatic calcification, C...	ORPHA:228308
Glucose/Galactose Malabsorption	Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea	OMIM:606824
Combined Oxidative Phosphorylation Deficiency 37	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:618329
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio...	OMIM:233600
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Pulmonic s...	OMIM:115470
Erythermalgia, Primary	Diarrhea, Xerostomia, Palpitations, Keratoconjunctivitis sicca, Constipation	OMIM:133020
Fanconi Anemia, Complementation Group O	Anal atresia, Rectal atresia, Neonatal death	OMIM:613390
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato...	OMIM:616263
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Esophagitis, Intestinal obstru...	ORPHA:913
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Aromatase Deficiency	Female infertility, Obesity, Eunuchoid habitus, Hepatic steatosis, Enlarged polycystic ovaries, H...	ORPHA:91
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Conge...	ORPHA:52430
Hurler-Scheie Syndrome	Cardiomyopathy, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Rhinitis	ORPHA:93476
Transcobalamin Ii Deficiency	Vomiting, Diarrhea, Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Ane...	OMIM:275350
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Diarrhea, Vomiting, Failure to thrive, Feeding difficulties in infancy	OMIM:264350
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes...	ORPHA:261529
Muckle-Wells Syndrome	Vasculitis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash,...	ORPHA:575
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Decreased body weight, Acute tubulointerstitial nephritis, Glomerulonephritis, Tubuloin...	ORPHA:340
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome...	OMIM:617591
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Mediastinal lymphadenopathy, Ascites, Nausea and vomiting,...	ORPHA:139411
Immunodeficiency 22	Diarrhea, Failure to thrive, Protracted diarrhea, Ascites, Decreased proportion of CD4-positive h...	OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, A...	OMIM:600802
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Good Syndrome	Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Th...	ORPHA:169105
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, ...	OMIM:620565
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Hyperprolinemia Type 2	Diarrhea, Abnormal circulating enzyme concentration or activity, Abdominal pain, Dysphagia, Feedi...	ORPHA:79101
Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Arrhythmia, Constipation, Abdominal pain, Dysphagia	ORPHA:1267
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Weight loss, Lymphadenopathy	ORPHA:411703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Achalasi...	OMIM:615356
Glycogen Storage Disease Ixa1	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circulating hepatic transam...	OMIM:306000
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Iron deficiency anemia,...	ORPHA:309031
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Obesity, Mitral regurgitation, Hepatic steatosis, Arrhythmia, Cleft palate	ORPHA:254346
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Hypoplasia of the thymus...	OMIM:619313
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Petechiae...	ORPHA:294
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, High palate, Diarrhea, B lymphocytopenia	OMIM:614069
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp...	ORPHA:231401
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Leukopenia, Hepatic steatosis, ...	OMIM:616271
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Hypertensive crisis, Diarrhea, Vomiting, Secretory diarrhea, Septic arthritis, Bloody ...	ORPHA:544482
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Congestive heart failure, Hypertroph...	OMIM:617303
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Oligomenorrhea, Hepatic steatosis	ORPHA:435660
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos...	OMIM:301000
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:609981
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis	OMIM:617577
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent...	ORPHA:280365
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Foodborne Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Arrhythmia, Constipation, Abdominal pain, Dysphagia	ORPHA:228371
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic...	OMIM:617788
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn...	ORPHA:90308
Coffin-Lowry Syndrome	Mitral regurgitation, Decreased body weight, High palate, Narrow palate, Rectal prolapse	OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Acquired Generalized Lipodystrophy	Acute pancreatitis, Cardiomyopathy, Abnormal cardiovascular system physiology, Hepatic steatosis,...	ORPHA:79086
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,...	OMIM:618131
Ethylmalonic Encephalopathy	Diarrhea, Petechiae, Failure to thrive	ORPHA:51188
Scrub Typhus	Hypotension, Abnormal bleeding, Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephal...	ORPHA:83317
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Q Fever	Hepatosplenomegaly, Weight loss, Anorexia, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Osteo...	ORPHA:781
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Petechiae, S...	OMIM:225750
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Dysbetalipoproteinemia	Obesity, Gout, Hepatic steatosis, Angina pectoris, Hepatomegaly, Acute pancreatitis	ORPHA:412
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Excessive bleeding after a venipuncture, Elevated circulating a...	ORPHA:99829
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Diarrhea, Vomiting, Failure to thrive, Feeding difficulties	OMIM:177735
Specific Granule Deficiency 2	Intractable diarrhea, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neut...	OMIM:617475
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Bifid uvula, Hepatic fibrosis, Hepatic failure, Intractable diarrhea, Failu...	OMIM:222470
Vipoma	Intrahepatic cholestasis, Secretory diarrhea, Abnormal abdomen morphology, Abnormal gastrointesti...	ORPHA:97282
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase...	OMIM:203800
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph...	ORPHA:29207
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Gout, Pancreatitis, P...	OMIM:232200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Increased intra...	OMIM:220110
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly	OMIM:615630
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Protuberant a...	OMIM:230900
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Macrocytic dyserythropoietic anemia, E...	OMIM:224120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Malabsorption, Psoriasiform derma...	ORPHA:793
Listeriosis	Arteritis, Diarrhea, Pustule, Abdominal pain, Jaundice, Endocarditis, Osteomyelitis, Peritonitis,...	ORPHA:533
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Irregular menstruation, Abnormal libido, Bruising susceptibility, Hepatic steatosis, Increa...	ORPHA:189427
Leptospirosis	Hypotension, Diarrhea, Subconjunctival hemorrhage, Hepatitis, Uveitis, Pulmonary hemorrhage, Reti...	ORPHA:509
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Hemolytic ane...	OMIM:603903
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Feeding difficulties, Microvesicular hepatic steatosis	OMIM:616672
Beta-Ketothiolase Deficiency	Hypotension, Diarrhea, Vomiting, Anorexia, Leukocytosis, Weight loss, Thrombocytosis, Hepatomegal...	ORPHA:134
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmu...	OMIM:601859
Immunodeficiency 112	Reduced natural killer cell count, Chronic mucocutaneous candidiasis, T lymphocytopenia, Increase...	OMIM:620449
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent...	OMIM:301078
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Cholecystitis, Spl...	OMIM:266200
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties	OMIM:619273
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Abnormal circulating enzyme concentration or activity, N...	ORPHA:79276
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri...	ORPHA:17
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu...	ORPHA:470
Acute Radiation Syndrome	Hypotension, Vomiting, Diarrhea, Abnormal bleeding, Inflammatory abnormality of the skin, Lymphop...	ORPHA:454831
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par...	ORPHA:456312
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention...	OMIM:619351
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent otitis media, Pyoderma, Lymph no...	OMIM:300755
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Esophageal ...	OMIM:616028
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemoly...	OMIM:617388
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer	ORPHA:3217
Turcot Syndrome With Polyposis	Hematochezia, Diarrhea, Vomiting, Leukemia, Adenomatous colonic polyposis, Intestinal polyposis, ...	ORPHA:99818
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Bronchiectasis	OMIM:619446
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Hereditary Angioedema Type 1	Hypotension, Diarrhea, Vomiting, Intestinal edema, Nausea, Abdominal pain, Abnormal soft palate m...	ORPHA:100050
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Bronchiectasis, Azoospermia, Malar rash,...	OMIM:210900
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Decreased f...	OMIM:269700
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Cirrhosis, Abdominal distention, Hepatomegaly, Ventric...	OMIM:270400
Melas	Dilated cardiomyopathy, Diarrhea, Intestinal pseudo-obstruction, Cardiomyopathy, Concentric hyper...	ORPHA:550
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Lissencephaly, X-Linked, 2	High palate, Diarrhea, Feeding difficulties in infancy	OMIM:300215
Encephalopathy, Ethylmalonic	Feeding difficulties, Chronic diarrhea, Petechiae, Failure to thrive	OMIM:602473
Addison Disease	Normocytic anemia, Thymoma, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Decrea...	ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen...	OMIM:608594
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Arrhythmia, Nausea, Chronic diarrhea, Hypergonadotropic hypogonadism	OMIM:615084
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Micronodular ...	OMIM:203700
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist...	OMIM:270420
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Ch...	OMIM:116920
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Elevated circulating hepatic transaminase concentration, Dia...	ORPHA:99921
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:881
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Seckel Syndrome 10	Acute pancreatitis, Congestive heart failure, Elevated circulating aspartate aminotransferase con...	OMIM:617253
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension, Erythema nodosum, Hepatomegaly, Mediastinal lympha...	OMIM:612387
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Diarrhea, Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate ...	OMIM:246450
Systemic Sclerosis	Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo...	ORPHA:90291
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A...	ORPHA:117
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intrac...	ORPHA:49566
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hemophagocytosis, Hep...	OMIM:603553
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Acrodermatitis Enteropathica	Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con...	ORPHA:37
Congenital Myopathy 20	High palate, Chronic diarrhea, Failure to thrive	OMIM:620310
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, A...	OMIM:235255
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Abdominal mass, Weight loss, Anemia, Abdominal pain, Hypertension	OMIM:256700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Neutrophilia, Hepa...	OMIM:612852
Oculoskeletodental Syndrome	Protein-losing enteropathy, Splenomegaly, Lacunar stroke, Hepatomegaly, Macroglossia, Small for g...	OMIM:618440
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Familial Glucocorticoid Deficiency	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Azoospermia, Epi...	ORPHA:361
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Sple...	ORPHA:464329
Mucopolysaccharidosis, Type Iiid	Diarrhea, Asymmetric septal hypertrophy, Recurrent otitis media, Mitral regurgitation, Splenomega...	OMIM:252940
Kawasaki Disease	Vasculitis, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Congestive heart failure, Cer...	ORPHA:2331
Rhabdoid Tumor	Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d...	OMIM:300842
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Hepatic steatosis, Constipation, High palate, Feeding difficulties	OMIM:619934
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec...	ORPHA:480536
Cockayne Syndrome Type 1	Male hypogonadism, Diarrhea, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:90321
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S...	ORPHA:2796
Lynch Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Malabsorption, Intestinal polyposis, Sali...	ORPHA:144
Cocaine Intoxication	Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestina...	ORPHA:90068
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Polycythemia, Increase...	ORPHA:3202
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Hy...	ORPHA:309854
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly,...	OMIM:612132
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg...	OMIM:162300
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Vomiting, Dilated cardiomyopathy, Failure to thrive, Inflammatory abnormality of the sk...	OMIM:610768
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Protruding tongue, Splenomegaly, Decreased beta-galact...	OMIM:230600
Angioedema, Hereditary, 1	Intestinal edema, Vomiting, Diarrhea, Abdominal pain	OMIM:106100
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom...	OMIM:139090
Anemia, Congenital Dyserythropoietic, Type Iv	Increased circulating lactate dehydrogenase concentration, Increased RBC distribution width, Pers...	OMIM:613673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Hyperlipoproteinemia, Type I	Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Episodic abdominal pain, Jaundice, Acute panc...	OMIM:238600
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Petechiae, Splenomegaly, Decreased body weight, Neo...	OMIM:608013
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Mitral regurgitation, Splenomegaly...	OMIM:230800
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Vascul...	ORPHA:50918
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis	OMIM:301220
Infantile Systemic Hyalinosis	Failure to thrive, Aplasia/Hypoplasia of the thymus, Malabsorption, Abnormality of the gastrointe...	ORPHA:2176
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Satoyoshi Syndrome	Amenorrhea, Diarrhea, Malabsorption	OMIM:600705
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Bardet-Biedl Syndrome	Irregular menstruation, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulati...	ORPHA:110
1P36 Deletion Syndrome	Gastroesophageal reflux, Dilated cardiomyopathy, Failure to thrive, Annular pancreas, Hypogonadis...	ORPHA:1606
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, A...	ORPHA:1655
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Petechiae, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Feeding difficulties in infancy, Constipation, Ortho...	OMIM:223900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Intestinal malrotation, Nausea and vomiting, Abnormality of the gastrointestinal trac...	ORPHA:2241
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Amyloidosis, Hereditary Systemic 1	Diarrhea, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Con...	OMIM:105210
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Pulmonary embolism, Increased mean corpuscular volume, Splenomegaly, Reticulocyto...	OMIM:185000
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Cardiomyopathy, Abnormal T-wave...	ORPHA:2131
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Malnutrition, Abnormal erythrocyte morphology, Acanthocytosis, Decreased body weight, F...	ORPHA:96180
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens...	OMIM:608233
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Hypertension, Esophageal varix	OMIM:243910
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis	OMIM:608654
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubuloin...	ORPHA:797
Immunodeficiency 9	Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Abnormal...	OMIM:612782
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Aspiration pneumonia, Abdominal pain, Achlorh...	ORPHA:173
Young-Onset Parkinson Disease	Diarrhea, Male sexual dysfunction, Female sexual dysfunction, Gastroparesis, Constipation, Nausea	ORPHA:2828
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Diarrhea, Vomiting, Abnormal EKG, Syncope, Orthostatic hypotension, Retrogra...	ORPHA:230
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Nijmegen Breakage Syndrome	Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ...	OMIM:251260
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Orthostatic hypotension, Feeding d...	ORPHA:427
Tarp Syndrome	Intrauterine growth retardation, Extramedullary hematopoiesis	ORPHA:2886
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction	OMIM:213700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Failure to thrive, Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Anemia, L...	OMIM:267700
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Decreased femal...	ORPHA:95409
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Hepatic steatosis, Hypoplasia of the ova...	OMIM:619321
Neonatal Inflammatory Skin And Bowel Disease	Blepharitis, Chapped lip, Anal fissure, Perianal dermatitis, Psoriasiform dermatitis, Recurrent g...	ORPHA:294023
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Abnormal rectum morpholog...	ORPHA:2556
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Vomiting, Diarrhea, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Insulinoma, Esophagitis, Zollinger-Ellison syndrome, Pancreatic islet cel...	OMIM:131100
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, Chronic sinusitis, T...	ORPHA:420741
Staphylococcal Necrotizing Pneumonia	Confusion, Leukopenia, Leukocytosis, Neutrophilia, Diabetes mellitus	ORPHA:36238
Diaphanospondylodysostosis	Protuberant abdomen, Enlarged kidney, Cleft palate, Abnormal liver lobulation	OMIM:608022
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Malabsorption, Intestinal obstruction, Telangiectasia, Keratoconjunctivitis sicca, ...	OMIM:601675
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Abdominal distention, Neonatal death	OMIM:619362
Scorpion Envenomation	Acute pancreatitis, Cardiogenic shock, Increased circulating lactate dehydrogenase concentration,...	ORPHA:466677
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Normochromic mic...	ORPHA:66634
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu...	ORPHA:99843
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed...	OMIM:618050
Serotonin Syndrome	Hypotension, Hepatic failure, Diarrhea, Nausea, Tachycardia, Hypertension	ORPHA:43116
African Trypanosomiasis	Diarrhea, Infertility, Hepatosplenomegaly, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Third...	ORPHA:3385
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Hepatomegaly, High palate, Ot...	OMIM:612541
Multiple Endocrine Neoplasia Type 1	Diarrhea, Shortened QT interval, Weight loss, Anorexia, Abdominal pain, Duodenal ulcer, Thymoma, ...	ORPHA:652
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Cerebral hemorrhage, Intracranial hemorrh...	OMIM:620371
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Hurler Syndrome	Cardiomyopathy, Splenomegaly, Angina pectoris, Abnormality of the tonsils, Hepatomegaly, Macroglo...	ORPHA:93473
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Houge-Janssens Syndrome 1	Chronic diarrhea, Pyloric stenosis	OMIM:616355
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Malignant gastrointestinal tract tumors, Diarrhea, Abnormal lymph node morphology, Lymphope...	ORPHA:99889
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Diarrhea, Vomiting, Dilated cardiomyopathy, Pancytopenia, Skin rash, Left ventricular hypertrophy...	OMIM:618321
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Chikungunya	Gingival bleeding, Epistaxis, Diarrhea, Abnormal bleeding, Vomiting, Cervical lymphadenopathy, Pe...	ORPHA:324625
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Reduced circulating aromatic L-amino acid decarbo...	OMIM:608643
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, High palate	OMIM:110100
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Anemia, Constipation, Feeding difficulties in infancy, Hepatomegaly	OMIM:239200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hepatic steatosis, Decreased body weight, Abdominal pain, Jaundice, High palate, H...	OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Chronic constipation, Decreased body weight, Thrombocytopenia, ...	OMIM:619005
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Hypogonadism, Chronic constipation, Feeding difficult...	ORPHA:500055
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy	ORPHA:100084
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cho...	OMIM:611881
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Leukocytosis, Pancolitis, Eosinophili...	OMIM:618213
19P13.13 Microdeletion Syndrome	Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Abdominal pain, Macrogl...	ORPHA:357001
Fg Syndrome Type 1	Abnormal large intestine morphology, Gastroesophageal reflux, Slender build, Anal atresia, Pulmon...	ORPHA:93932
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Diarrhea, Abnormal tongue morphology, Cervical lymphadenopathy, Ganglioneuro...	ORPHA:653
Colchicine Poisoning	Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Congestive heart failure, Leukocytosis, Arrhy...	ORPHA:31824
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea, Hemolytic anemia	OMIM:615399
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma...	OMIM:610163
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis	OMIM:609536
Immunodeficiency, Common Variable, 14	Recurrent sinusitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells, Pso...	OMIM:617765
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Abdominal distention, Anal atresia	OMIM:617666
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Abnormality of neutrophils, Oral leuko...	ORPHA:1775
Mosaic Trisomy 9	Intestinal malrotation, Asplenia, High palate, Cleft palate, Abnormal liver lobulation	ORPHA:99776
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Splenomegaly, Weight loss, Pulmonary arterial ...	OMIM:181000
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Digeorge Syndrome	High, narrow palate, Bifid uvula, Cholelithiasis, Gastroesophageal reflux, Recurrent pneumonia, R...	OMIM:188400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Cholecystitis, Sp...	OMIM:615512
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Tricuspid regurgit...	ORPHA:79328
Neuroblastoma	Abnormal bleeding, Increased circulating lactate dehydrogenase concentration, Abdominal mass, Wei...	ORPHA:635
Polymerase Proofreading-Related Adenomatous Polyposis	Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po...	ORPHA:447877
Chediak-Higashi Syndrome	Periodontitis, Bruising susceptibility, Hemophagocytosis, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Ogden Syndrome	Diarrhea, Torsade de pointes, Recurrent otitis media, Premature ventricular contraction, Arrhythm...	OMIM:300855
Multiple Endocrine Neoplasia Type 4	Thymoma, Peptic ulcer, Diarrhea, Insulinoma, Esophagitis, Zollinger-Ellison syndrome, Episodic ab...	ORPHA:276152
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Decreased fertility, Feeding ...	ORPHA:273
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neova...	OMIM:158310
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, P...	ORPHA:221139
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Rothmund-Thomson Syndrome	Diarrhea, Vomiting, Aplastic anemia, Infertility, Malar rash, Skin rash, Anemia, Telangiectasia o...	ORPHA:2909
Familial Thrombocytosis	Chronic myelogenous leukemia, Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Sp...	ORPHA:71493
Rothmund-Thomson Syndrome Type 1	Vomiting, Diarrhea, Aplastic anemia, Nasogastric tube feeding, Hypogonadism, Functional abnormali...	ORPHA:221008
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic p...	ORPHA:454840
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr...	OMIM:617827
Microphthalmia, Syndromic 1	High, narrow palate, Recurrent otitis media, Aganglionic megacolon, Anal atresia, High palate, Re...	OMIM:309800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Elevated circulating alkaline phosphatase concentration, Microvesicula...	OMIM:300868
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Abdominal distention, Elevated stool chloride content	OMIM:214700
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Palpitations, Abnormal circulating enzyme c...	ORPHA:565612
Sitosterolemia 1	Stomatocytosis, Abnormal bleeding, Giant platelets, Increased circulating lactate dehydrogenase c...	OMIM:210250
Li-Fraumeni Syndrome	Stomach cancer, Neoplasm of the pancreas, Neoplasm of the rectum, Acute myeloid leukemia, Leukemi...	ORPHA:524
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Elevated circulating hepatic transaminase concentration, Xerostomia, Diarrhea, Oral-ph...	ORPHA:95455
Mucopolysaccharidosis Type 3	Atrioventricular block, Recurrent tonsillitis, Aspiration pneumonia, Reduced left ventricular eje...	ORPHA:581
Deeah Syndrome	Exocrine pancreatic insufficiency, Malabsorption, Decreased heart rate variability, Chronic const...	OMIM:619004
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hypertension, Hepatic steatosis, Acute pancreatitis	OMIM:151660
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Diarrhea, Nausea and vomiting, Autoimmune hemolytic anemia	ORPHA:90035
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Recurrent otitis media, Chronic constipation, Arrhythmia, Erythema nodosum, He...	OMIM:256040
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Subcutaneous hemorrhage, Intestinal polyposis, Intracranial ...	ORPHA:109
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, ...	OMIM:600001
Gitelman Syndrome	Diarrhea, Prominent U wave, Failure to thrive, Abnormal T-wave, Palpitations, Nausea and vomiting...	ORPHA:358
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Vomiting, Failure to thrive, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral regurgit...	OMIM:220111
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, Exocrine pancreatic insufficien...	ORPHA:2255
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Ascites, Feeding difficulties	OMIM:618183
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Atopic dermatitis, Fetal ascites, Failure to thrive, Nasogastric tube feeding, Cholestasis, Recur...	OMIM:619503
Blau Syndrome	Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Large vessel vasculitis, Sple...	ORPHA:90340
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Hellp Syndrome	Hypotension, Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocyt...	ORPHA:244242
Atypical Werner Syndrome	Aortic valve stenosis, Failure to thrive, Congestive heart failure, Hypogonadism, Decreased ferti...	ORPHA:79474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Purpura, Schistocytosis, Thrombocyt...	OMIM:235400
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Nijmegen Breakage Syndrome	Anal stenosis, Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Cachexia, Anal a...	ORPHA:647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties	OMIM:620358
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome...	ORPHA:64
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Failure to thrive, Feeding difficulties, Perineal fistula, Subm...	ORPHA:2753
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Weight loss, Small for gestational age	ORPHA:424
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Vomiting, Failure to thrive, Recurrent pancreatitis, Pulmonary arterial hypertension, D...	OMIM:606721
Phoar2-Enteropathy Syndrome	Acne, Seborrheic dermatitis, Secretory diarrhea	OMIM:614441
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Spl...	OMIM:263700
Rothmund-Thomson Syndrome Type 2	Diarrhea, Vomiting, Aplastic anemia, Nasogastric tube feeding, Functional abnormality of the gast...	ORPHA:221016
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal bleeding, Decreased liver function, Hypersplenism, Inte...	ORPHA:77293
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Abnormal ton...	ORPHA:158668
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis	ORPHA:457279
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ...	ORPHA:280633
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mitral regurgit...	OMIM:619127
Japanese Encephalitis	Neutrophilia, Vomiting, Diarrhea, Infectious encephalitis, Anorexia, Abdominal pain	ORPHA:79139
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Heart ...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Heart ...	ORPHA:217093
Zttk Syndrome	Aortic regurgitation, Bifid uvula, Failure to thrive, Absent gallbladder, Submucous cleft hard pa...	OMIM:617140
Dubowitz Syndrome	Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Eczematoid dermatitis, Ac...	OMIM:223370
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia	OMIM:618882
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Colonic diverticula, Intrahepatic cholestasis, Hepatic ...	OMIM:243800
Distal Renal Tubular Acidosis	Vomiting, Diarrhea, Failure to thrive, Constipation, Hemolytic anemia, Poor appetite	ORPHA:18
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	OMIM:619534
Diamond-Blackfan Anemia 21	Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea	OMIM:620072
Aspartylglucosaminuria	Diarrhea, Mitral regurgitation, Reduced tissue aspartylglucosaminidase activity, Vacuolated lymph...	OMIM:208400
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Secretory diarrhea	OMIM:167100
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Obesity, Mitral r...	OMIM:615873
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Cardiomyopathy, Splenomegaly, Enlarged tonsils, Arrhythmia, Hepatomegaly, Mac...	ORPHA:580
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea	OMIM:300953
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Recurrent otitis media, Slender build, Feeding difficulties, Hepatic steatosis...	ORPHA:3455
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic...	ORPHA:572333
Viss Syndrome	Cleft soft palate, Chronic constipation, Abdominal distention, Celiac disease, High palate, Dysph...	OMIM:619472
Bartter Syndrome, Type 1, Antenatal	Vomiting, Diarrhea, Failure to thrive, Constipation, Low-to-normal blood pressure, Small for gest...	OMIM:601678
Omphalocele Syndrome, Shprintzen-Goldberg Type	Anal atresia, Gastroesophageal reflux, Chronic diarrhea, Feeding difficulties in infancy	ORPHA:3164
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Carney Complex	Abnormal sperm motility, Bruising susceptibility, Congestive heart failure, Neoplasm of the pancr...	ORPHA:1359
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to t...	ORPHA:79318
Proximal Renal Tubular Acidosis	Vomiting, Diarrhea, Failure to thrive, Malabsorption, Hypovolemia	ORPHA:47159
Bartter Syndrome, Type 2, Antenatal	Vomiting, Diarrhea, Failure to thrive, Constipation, Low-to-normal blood pressure, Small for gest...	OMIM:241200
Sacral Defect With Anterior Meningocele	Constipation, Rectal abscess	OMIM:600145
Homozygous Familial Hypercholesterolemia	Supravalvular aortic stenosis, Mitral regurgitation, Hepatic steatosis, Hypertension, Angina pect...	ORPHA:391665
Occipital Horn Syndrome	Bruising susceptibility, Hiatus hernia, Orthostatic hypotension, High palate, Chronic diarrhea	OMIM:304150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Gastroesophageal reflux, Failure to thrive in infancy, Gastroparesis, Transient isch...	ORPHA:500150
Superficial Siderosis	Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage	ORPHA:247245
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Abnormal circulating enzyme concentration or activit...	ORPHA:909
Penile Agenesis	Anorectal anomaly, Anal atresia, Tracheoesophageal fistula, Rectal fistula	ORPHA:49
Nmda Receptor Encephalitis	Neoplasm of the thymus, Vomiting, Diarrhea, Orthostatic hypotension	ORPHA:217253
Restrictive Dermopathy	Microcolon, Submucous cleft hard palate	ORPHA:1662
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Transient ischemic attack, Telangie...	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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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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 21.1 Data