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Gene: Krt8 MGI:96705

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Gene Summary

Name:
keratin 8
Synonyms:
Card2,  Krt-2.8,  K8,  cytokeratin 8,  EndoA,  Krt2-8,  cytokeratin8,  cytokeratin-8

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Krt8tm1b(EUCOMM)Hmgu HET Early adult 6.37×10-05
decreased exploration in new environment Krt8tm1b(EUCOMM)Hmgu HET Early adult 1.64×10-05
increased prepulse inhibition Krt8tm1b(EUCOMM)Hmgu HET Early adult 3.71×10-05
preweaning lethality, complete penetrance Krt8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased neutrophil cell number Krt8tm1b(EUCOMM)Hmgu HET Early adult 5.38×10-05

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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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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm... ORPHA:424019
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:605911
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... OMIM:121300
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Vomiting, Failure to thrive, Hepatic steatosis OMIM:620357
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... ORPHA:103909
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Carcinoid Syndrome
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Chronic noninfectiou... ORPHA:100093
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... OMIM:269840
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... OMIM:112200
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Mala... ORPHA:79301
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting ORPHA:33402
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bili... OMIM:219700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Episodic vomiting, H... OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Diarrhea, Intermittent jaundice, Elevated c... OMIM:601847
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... OMIM:602347
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... ORPHA:75234
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... ORPHA:90038
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Hemochromatosis, Neonatal
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... OMIM:231100
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Feeding diff... OMIM:251880
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Decreased mucosal sucrase-isomaltase activity, Malabsorption OMIM:222900
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... ORPHA:424016
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High... ORPHA:79076
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... OMIM:231530
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Hypertension, Azoosper... OMIM:615703
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Abnormal bleeding, Portal hypertension, Intrahepatic portal v... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... ORPHA:298
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... OMIM:614602
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... ORPHA:131
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Acanthocytosis, Abdominal... ORPHA:71
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... OMIM:620045
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Feeding difficulties... ORPHA:71212
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:619048
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Vomiting, Hepatic ... OMIM:617872
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis, Vomiting,... ORPHA:264580
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Abnormalit... ORPHA:905
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ... OMIM:214900
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Chronic ... ORPHA:33355
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Abdomi... ORPHA:2070
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Hepatic fibrosis, ... OMIM:602579
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy OMIM:619175
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... ORPHA:229717
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Anorexia, Splenomegaly, Abdominal pa... ORPHA:2930
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Diarrhea, Lactose intolerance OMIM:223000
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steat... OMIM:615119
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cystic Fibrosis
Elevated hepatic transaminase, Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchi... ORPHA:586
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Failure to... OMIM:230350
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, L... ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... OMIM:613489
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymph... OMIM:209950
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... ORPHA:85450
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Increased hepatic glycog... OMIM:261750
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... ORPHA:99745
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Diffuse alveolar hemorrhage, Feeding... OMIM:616050
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Jaundice, Diarrhea, Hepat... ORPHA:79333
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
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
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties ORPHA:79238
Galactosemia I
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ddost-Cdg
Elevated hepatic transaminase, Gastroesophageal reflux, Constipation, Failure to thrive, Hepatic ... ORPHA:300536
Patent Ductus Venosus
Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy... OMIM:601466
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... OMIM:610717
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100082
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Reye s... ORPHA:26791
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Hepatiti... ORPHA:33110
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Autoimmune Hepatitis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric va... OMIM:613490
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Congestive ... ORPHA:67
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-... ORPHA:1333
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100080
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... ORPHA:858
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Failure to thrive, Bleeding requiring red cell transfusion, Intrah... OMIM:619484
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... ORPHA:99828
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Gastroesophageal... ORPHA:70472
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Failure to thrive, Hepatic steatosis, Feeding difficulties ORPHA:26792
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... OMIM:615387
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia, Hepatic steatosis... OMIM:606069
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... OMIM:612840
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato... ORPHA:169160
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Abdo... OMIM:608104
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... OMIM:615438
Immunodeficiency 56
Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis,... OMIM:615207
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... ORPHA:824
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... OMIM:232700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pa... ORPHA:54251
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Elevated al... ORPHA:398063
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abdominal distention, Portal fibr... ORPHA:369
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Abnormal lactate d... ORPHA:42
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hepatic fibrosis, Infertility, Oligomenorrhea, Hepatic steatosis ORPHA:280356
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocyto... OMIM:618108
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Secondary am... OMIM:613313
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Inflammation of the large... OMIM:615767
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Abnormal intestine morphology ORPHA:977
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia ORPHA:1332
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipat... ORPHA:85447
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis ORPHA:210548
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,... ORPHA:53035
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormal glycosphingolipid metabolism, Fail... ORPHA:796
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph... ORPHA:277
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart... OMIM:614921
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea... OMIM:226300
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Malabso... ORPHA:3452
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, V... ORPHA:343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Acute Liver Failure
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, ... ORPHA:90062
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus, Mi... OMIM:609313
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... OMIM:235510
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Pancreatitis, Hepatic steatosis ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala... OMIM:619386
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Feeding difficulties OMIM:611721
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated gamma-glutamyltransferase lev... ORPHA:100085
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
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Obesity, Primary amenorrhea OMIM:600955
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Atrial fibrillat... OMIM:613327
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, H... OMIM:613177
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Aa Amyloidosis
Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... ORPHA:85445
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumonia, Ne... OMIM:150550
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... OMIM:613070
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... ORPHA:810
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Dubowitz Syndrome
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... ORPHA:235
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Abdomin... OMIM:235200
Sepsis In Premature Infants
Gastrointestinal dysmotility, Vomiting, Neutropenia, Abnormal bleeding, Hepatomegaly, Leukocytosi... ORPHA:90051
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... OMIM:617638
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated ... ORPHA:79332
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Congestive heart failure, Ly... OMIM:615895
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Caspase 8 Deficiency
Failure to thrive, Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Decreased ... OMIM:607271
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdomin... OMIM:212750
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Hepatic fibrosi... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... ORPHA:721
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosp... ORPHA:444490
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Abdominal pain, Thrombocytopen... ORPHA:83313
Sandhoff Disease, Juvenile Form
Reduced beta-hexosaminidase activity, Diarrhea, Constipation, Dysphagia, Failure to thrive ORPHA:309162
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... OMIM:613501
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Diarrhea, Hepatosplenomegaly, H... ORPHA:79322
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Congestive heart failure, Splenomegaly, Secondary amenorrhea, Primary... ORPHA:79083
Immunodeficiency 47
Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Tricuspid regurgitation, Accessor... OMIM:300972
Bardet-Biedl Syndrome 19
Hypogonadism, Patent ductus arteriosus, Hepatic steatosis, Obesity OMIM:615996
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Atreti... ORPHA:30391
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level... OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat... ORPHA:79259
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Cold Agglutinin Disease
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib... ORPHA:541423
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Leprechaunism
Hepatomegaly, Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Decreased body... ORPHA:508
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Splenomegaly, Paten... OMIM:614576
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia ORPHA:77260
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Immunodeficiency 85 And Autoimmunity
Tube feeding, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthr... OMIM:619510
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Menorr... ORPHA:168816
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... OMIM:257200
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis, Oligomenorrhea OMIM:613877
Brunner Syndrome
Diarrhea OMIM:300615
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hepatic steatosis OMIM:608709
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Intestinal obstruction, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, S... ORPHA:32960
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting OMIM:201450
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Premature ovarian ins... OMIM:212065
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria... ORPHA:276
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... OMIM:240300
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... OMIM:176000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenome... OMIM:619013
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... OMIM:618394
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Cerebra... ORPHA:927
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Feeding difficulties in i... OMIM:301056
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hepatomegaly... OMIM:615846
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ... ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadenopathy, Conjunctiviti... OMIM:603552
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased b... OMIM:607906
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Relapsing Fever
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Abdominal... ORPHA:91547
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea, Vasculitis, Skin rash OMIM:601979
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure ORPHA:664
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Macroglossia, Oligomenorrhea, Cirrhosis, Hypertrophic car... ORPHA:528
Lassa Fever
Abnormal bleeding, Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Jaundice, Diarrh... ORPHA:99824
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, ... OMIM:242700
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Vomiting, Intermittent diarrhea, Failure to thrive, Nasogastric tu... ORPHA:289504
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Mediastinal lymphaden... ORPHA:91138
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Elevated circu... OMIM:239300
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomega... ORPHA:3226
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Jaundice, Splenomegaly,... ORPHA:549
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Absence of lymph nod... OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectas... OMIM:242860
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... OMIM:619281
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... ORPHA:97280
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s... ORPHA:244
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, ... OMIM:619487
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Hypertr... ORPHA:2348
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... OMIM:617093
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... OMIM:249100
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf... OMIM:610377
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... ORPHA:79327
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Vomiting, Failure to thrive OMIM:616069
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Weight loss, Bon... ORPHA:391
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Cardiomyopathy, Reduced car... ORPHA:228305
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Patent ductus arteriosu... ORPHA:589821
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, V... ORPHA:79455
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Patent ductus arteriosus, Diarrhea, Weight loss, Hypertrophic ... ORPHA:1842
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Atrial fibrillation, Nausea and vomiti... ORPHA:525731
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia... ORPHA:39041
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Alg8-Cdg
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Failure to thrive, Smal... ORPHA:79325
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, In... ORPHA:263455
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertension, Hepatic steatosis, Irregular menstruation OMIM:615238
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... ORPHA:440437
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Nausea and vomiting, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:36412
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, My... ORPHA:31205
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Prolonged prothrombin t... OMIM:614300
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid... OMIM:616740
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Pylori... ORPHA:379
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergo... ORPHA:2959
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... ORPHA:398124
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Low alkaline phosphatase, Hypogonadism, Fail... OMIM:201100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Macrocytic anemia, Premature ova... ORPHA:199299
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... ORPHA:436252
Stevens-Johnson Syndrome
Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Dyspareunia, N... ORPHA:36426
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Gastroesophageal r... ORPHA:2414
Monosomy 13Q34
Metrorrhagia, Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, He... ORPHA:96168
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Elevated... OMIM:615381
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Weight loss, Abnormal lymph node morpho... ORPHA:677
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... ORPHA:287
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Abnor... ORPHA:556
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia... ORPHA:540
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet vol... OMIM:617718
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... OMIM:615607
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Fail... ORPHA:247598
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega... ORPHA:158057
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating enzyme concentration or activity, Increased fecal coproporphyrin 3, Abdomina... ORPHA:100924
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloo... ORPHA:391673
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Sple... OMIM:618935
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... OMIM:610333
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Iron defic... OMIM:301074
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... ORPHA:99827
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Right ve... ORPHA:97287
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Diarrhea, Vomiting, Elevated total serum tryptase, Nausea ORPHA:79457
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Lipodystrophy, Familial Partial, Type 6
Hypertension, Abdominal obesity, Hepatic steatosis OMIM:615980
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Williams Syndrome
Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal reflux, Chronic otitis med... ORPHA:904
Babesiosis
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Myocardial infarction, Anorexia, Congestive ... ORPHA:108
Mirage Syndrome
Hypergonadotropic hypogonadism, Thrombocytopenia, Esophageal stricture, Cryptorchidism, Patent du... OMIM:617053
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diar... OMIM:233600
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated... OMIM:269920
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Poor appe... ORPHA:542323
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Abetalipoproteinemia
Abnormal bleeding, Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Ac... ORPHA:14
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Neutropenia, Prolonged prothrombin ... OMIM:617941
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hypertension, Oligomenorrhea, Cirrhosis, Hepatic steatosis OMIM:604367
Immunodeficiency 15B
Chronic diarrhea, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural kille... OMIM:615592
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis, Hypertension ORPHA:363400
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy OMIM:252920
Glutaric Aciduria Iii
Diarrhea, Hypertension, Vomiting, Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to t... OMIM:231690
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... ORPHA:391487
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis OMIM:616589
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Raynaud phenomeno... ORPHA:93552
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... OMIM:611762
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypogonadism, Constipat... ORPHA:163746
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Wilson Disease
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... OMIM:277900
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Obesity, Feeding difficulties, Gastroesophageal reflux, High palate, Fai... OMIM:617157
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In... ORPHA:3260
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Abdo... ORPHA:486
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarr... OMIM:260920
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Oligomenorrhea ORPHA:435651
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase ... ORPHA:54057
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri... OMIM:212138
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, N... ORPHA:2552
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Feeding difficulties in infancy, Acute hepatic steatosis, Failure to thrive, Vomiting OMIM:210200
Lujo Hemorrhagic Fever
Fulminant hepatitis, Odynophagia, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exanthe... ORPHA:319213
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Stillbirth, Decreased liver function, Neonata... OMIM:614922
Williams-Beuren Syndrome
Colonic diverticula, Failure to thrive in infancy, Portal hypertension, Celiac disease, Feeding d... OMIM:194050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ... ORPHA:98813
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh... ORPHA:188
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... OMIM:612692
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Thrombocytop... OMIM:170100
Satoyoshi Syndrome
Diarrhea, Amenorrhea, Malabsorption OMIM:600705
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Ecchymosis, Infe... ORPHA:36234
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Le... OMIM:613989
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... ORPHA:36397
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia OMIM:252930
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye s... ORPHA:20
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhy... ORPHA:352447
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Intestinal pseudo-obstruction, Congestive hear... OMIM:309900
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Microcolon, Intestinal malrotation, Portal hypertension OMIM:619431
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Vasculitis, ... OMIM:617099
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Abdominal pain,... OMIM:229600
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... OMIM:618523
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Oligomenorrhea ORPHA:79085
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... OMIM:231000
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, High palate, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Vomiting, H... OMIM:619525
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Rectal atresia, Anal atresia OMIM:613390
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Intest... OMIM:613658
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe... OMIM:620233
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Sti... ORPHA:85212
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Plague
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... ORPHA:707
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... OMIM:613385
Spontaneous Periodic Hypothermia
Nausea and vomiting, Arrhythmia, Skin rash, Diarrhea ORPHA:29822
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Hep... ORPHA:454836
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Aregenerative Anemia
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... OMIM:613960
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... OMIM:601495
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Diarrhea, Asymmetric septal hypertrophy OMIM:252900
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Lymphadenopathy, Macroglossia, Glossitis ORPHA:2221
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Chronic ... ORPHA:699
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Prolonged bleeding time, Gastritis, Hemo... ORPHA:809
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di... ORPHA:90362
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Blue Diaper Syndrome
Elevated hepatic transaminase, Diarrhea, Increased body weight ORPHA:94086
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... ORPHA:31825
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... ORPHA:49827
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hepatic calcification, Renal tubula... ORPHA:228308
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Poor suck, Female infertility OMIM:619518
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Decreased acid ceramidase activity, Fa... OMIM:228000
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties in infancy, Congestiv... ORPHA:746
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... ORPHA:2088
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Chroni... OMIM:268800
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastrit... ORPHA:84064
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic diarrhea OMIM:614699
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Jaundice, Splenomegaly, Hepatitis, Ly... ORPHA:381
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Protein avoidance, Thrombocytopenia, Splenomegaly, Malnutrition, Diarrhea, ... OMIM:222700
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Inf... ORPHA:1304
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Pyoderma, Conjunctivitis, Ab... OMIM:307200
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiom... ORPHA:436271
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... OMIM:275350
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Anorexia, Malabsorption, Poor appeti... ORPHA:97282
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations OMIM:133020
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Bile duct prolif... OMIM:618329
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn... ORPHA:47612
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... ORPHA:469
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive OMIM:264350
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Elevated circu... OMIM:301500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Congestive he... OMIM:617156
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phe... OMIM:615688
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Diar... ORPHA:913
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... ORPHA:75564
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Conge... ORPHA:52430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Small for gestational age... OMIM:208085
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Vasculitis in the skin, Petechiae, ... OMIM:620296
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Cryptorchidism, Obesity, Cleft palate, Mitral regurgitation, Arrhythmia, He... ORPHA:254346
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... ORPHA:793
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... ORPHA:340
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Immunodeficiency 22
Pericarditis, Failure to thrive, Thrombocytopenia, Diarrhea, Capillary leak, Protracted diarrhea,... OMIM:615758
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Failure to thrive, Hepatic stea... OMIM:616263
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age ORPHA:293964
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Pate... OMIM:617303
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Cardiomyopathy, Abn... ORPHA:98907
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Pustule, Poor appetite, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, B lymphocytopenia, High palate, Pneumonia OMIM:614069
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Vasculitis, Uveitis, Arthrit... ORPHA:575
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:93111
Hyperprolinemia Type 2
Abnormal circulating enzyme concentration or activity, Abdominal pain, Diarrhea, Feeding difficul... ORPHA:79101
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:228371
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, T... OMIM:617591
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Bronchiectasis, Female infertility OMIM:617577
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Feeding difficulties, Leukopeni... OMIM:616271
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Feeding difficulties, Cardiomyopathy, Bone marrow hypocellularity,... ORPHA:445038
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Acute colitis, Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myoca... ORPHA:544482
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Feeding difficulties in infancy, Thrombo... OMIM:225750
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Coffin-Lowry Syndrome
Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body weight OMIM:303600
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Oligomenorrhea ORPHA:435660
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Yellow Fever
Vomiting, Nausea, Internal hemorrhage, Abnormal bleeding, Neutrophilia, Elevated circulating aspa... ORPHA:99829
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Patent duc... OMIM:251290
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Jaundice,... ORPHA:2331
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dysmenorrhea, Co... ORPHA:280365
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Esophagitis, Achalasia, Hepati... OMIM:615356
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Patent ductus arteriosus, Pyelonephritis, Bidir... OMIM:619351
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive OMIM:177735
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... ORPHA:90308
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count OMIM:609981
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... OMIM:617475
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Splenic rupture, ... ORPHA:335
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... ORPHA:29207
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Chol... OMIM:124000
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... OMIM:613471
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Acne, Abd... ORPHA:117
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Angina pectoris, Obesity, Gout, Hepatic steatosis ORPHA:412
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acute Intermittent Porphyria
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Tachycardia, Abdomina... ORPHA:79276
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Petechiae ORPHA:51188
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp... OMIM:216360
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, High palate, Decreased liver function, Increased intra... OMIM:220110
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Hypertension, Cardio... ORPHA:79086
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age... OMIM:222470
Glycogen Storage Disease Ia
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gout, Hypertension, Protuberant a... OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Irregular menstruation, Increased body weight, Hypertension, Abdominal obesity, Abnormal li... ORPHA:189427
Listeriosis
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ... ORPHA:533
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Congestive heart failure, Splenomegaly, Anemia ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... OMIM:224120
Q Fever
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... ORPHA:781
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Feeding difficulties OMIM:616672
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasi... OMIM:300755
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... OMIM:230900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Abnormal erythrocyte morph... ORPHA:766
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, ... ORPHA:509
Scrub Typhus
Abnormal bleeding, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Myocarditis,... ORPHA:83317
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism, Cholelithiasis OMIM:619273
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... ORPHA:333
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Hepatic steatosis, Bifid uvula, ... OMIM:270400
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... ORPHA:454831
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Lysinuric Protein Intolerance
Leukopenia, Tubulointerstitial nephritis, Vomiting, Abnormal bleeding, Hepatomegaly, Hepatospleno... ORPHA:470
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... OMIM:210900
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopenia, Splenomega... ORPHA:77259
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension,... ORPHA:134
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Inc... OMIM:616005
Addison Disease
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency,... ORPHA:85138
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... ORPHA:361
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... OMIM:257220
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... OMIM:617388
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadism, Car... ORPHA:550
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosi... OMIM:603903
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, High palate, Re... OMIM:605309
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... OMIM:232220
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy ORPHA:79292
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Malabsorption, Sebo... ORPHA:2796
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Lacunar stroke, Macrogloss... OMIM:618440
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Feeding difficulties, High palate, Constipation, Gastroesophageal reflu... OMIM:619934
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Pulmona... OMIM:616028
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... OMIM:116920
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Chronic diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea OMIM:615084
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis OMIM:238600
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated hemog... OMIM:617253
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Petechiae, Feeding difficulties OMIM:602473
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia OMIM:256700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosi... OMIM:230600
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive, High palate OMIM:620310
Rhabdoid Tumor
Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... OMIM:608594
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... ORPHA:49566
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99228
Monosomy X
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99226
Turner Syndrome
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:881
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti... OMIM:612387
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Diarrhea, Uveitis, Hypertension, Con... ORPHA:90321
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... ORPHA:90068
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple... OMIM:612852
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Jaundice,... OMIM:603553
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder... ORPHA:99921
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... OMIM:610768
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgi... OMIM:252940
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Lymphangioma, Thrombocytopenia, ... ORPHA:464329
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis OMIM:301220
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... OMIM:139090
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Mac... OMIM:618268
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Neoplasm of the rectum, Ac... ORPHA:524
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastr... OMIM:612132
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
1P36 Deletion Syndrome
Feeding difficulties in infancy, Pyloric stenosis, Abnormality of the spleen, Dilated cardiomyopa... ORPHA:1606
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenome... OMIM:608013
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Peria... OMIM:612541
Tarp Syndrome
Cryptorchidism, Extramedullary hematopoiesis, Intrauterine growth retardation ORPHA:2886
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... OMIM:230800
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasc... ORPHA:50918
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight, F... ORPHA:96180
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular he... ORPHA:66634
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, D... ORPHA:454840
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Constipation, Episodic vomiting, Orthostatic h... OMIM:105210
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... OMIM:153670
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Cholera
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... ORPHA:173
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... OMIM:601675
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Ga... OMIM:223900
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Oral-pharyngeal dyspha... ORPHA:2131
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Autoimmune hemolytic anemia, Premature ovarian insuff... OMIM:251260
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Leukocytosis, Abdominal obesity, Hypoplasia of the ova... OMIM:619321
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... ORPHA:427
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, ... OMIM:608233
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Retrograde ejaculation, Syncope, Orthostatic syn... ORPHA:230
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea ORPHA:2828
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Decreased female libido, Myocard... ORPHA:95409
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Abdominal pain, Intraventric... ORPHA:420741
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Hypertr... ORPHA:2556
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis OMIM:213700
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... ORPHA:797
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, High palate, Amenorrhea OMIM:110100
Arima Syndrome
Hepatomegaly, Esophageal varix, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
African Trypanosomiasis
Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Hepatosplenomegaly, Lymphad... ORPHA:3385
Mosaic Trisomy 9
Intestinal malrotation, Asplenia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, High pa... ORPHA:99776
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... OMIM:607625
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidis... OMIM:619005
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Severe periodontitis, Small for gestational age, Microcytic anemia, P... ORPHA:99843
Multiple Endocrine Neoplasia Type 1
Anorexia, Zollinger-Ellison syndrome, Gastroesophageal reflux, Vomiting, Decreased male libido, N... ORPHA:652
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, High... ORPHA:93932
Diaphanospondylodysostosis
Protuberant abdomen, Enlarged kidney, Abnormal liver lobulation, Cleft palate OMIM:608022
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es... OMIM:131100
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe... ORPHA:466677
Chikungunya
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema no... ORPHA:324625
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Pancreat... ORPHA:99889
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Incr... ORPHA:90041
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feedin... ORPHA:93473
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Failure to thrive, Anemia OMIM:239200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula... OMIM:618321
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... OMIM:300908
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... ORPHA:500055
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Malabsorption... OMIM:619004
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Abnormal... ORPHA:1775
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Confusion, Leukocytosis, Leukopenia ORPHA:36238
Digeorge Syndrome
Acne, Seborrheic dermatitis, High, narrow palate, Thrombocytopenia, Splenomegaly, Recurrent pneum... OMIM:188400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, High palate, Vomiting, Otitis media, Hepatic steatosis, Abdominal pain, Over... OMIM:619475
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Colchicine Poisoning
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Diarrhea, Vomiting, Hypotension... ORPHA:31824
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Cervical lymphadenopathy... ORPHA:653
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Ogden Syndrome
Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, ... OMIM:300855
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... OMIM:610163
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... OMIM:617765
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Testicular neoplasm, Diarrhea, Insulinoma, Thymoma, Extrahepatic cholestasis, Episo... ORPHA:276152
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia OMIM:617666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Cryptorchidism, Diar... ORPHA:221008
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... OMIM:309800
Rothmund-Thomson Syndrome
Aplastic anemia, Telangiectasia of the skin, Skin rash, Small for gestational age, Nasogastric tu... ORPHA:2909
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Recurr... OMIM:214500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Alg9-Cdg
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Diarrhea, Periportal fibrosis, Hypoplasia... ORPHA:79328
Mucopolysaccharidosis Type 3
Hepatomegaly, Malabsorption, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Atri... ORPHA:581
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Congestive heart failu... OMIM:615512
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... OMIM:181000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... ORPHA:95455
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Steinert Myotonic Dystrophy
Prolonged QRS complex, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficul... ORPHA:273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... OMIM:300868
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution, Arthritis, B lymphocytope... ORPHA:221139
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:158310
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... ORPHA:71493
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropath... OMIM:618183
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ... ORPHA:565612
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Patent ductus arteriosus, Biliary ... OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, B... ORPHA:2255
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia ORPHA:90035
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platele... OMIM:210250
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypertension OMIM:151660
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Cachexia, Narrow pala... ORPHA:109
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Nausea and vomiting, Hashimoto thyroiditis, Abdo... ORPHA:358
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Microcytic anemia, Conjunctivitis, Hepatomegaly, Epididymitis, Lymphadenopathy, Par... OMIM:256040
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Microvesicular hepatic steatosis, Feeding difficulties, Anteriorly pla... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Cleft soft palate, Portal hypertension, Fetal ascites, Cryptorchidism, Esophage... OMIM:619503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Feeding difficulties in infancy, Patent ductus arteriosus, Hydrocele testis, High ... ORPHA:280633
Ataxia-Telangiectasia
Conjunctival telangiectasia, Failure to thrive, Sinusitis, Female hypogonadism, Chronic diarrhea,... OMIM:208900
Orofaciodigital Syndrome Type 4
Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a... ORPHA:2753
Atypical Werner Syndrome
Decreased body weight, Premature ovarian insufficiency, Telangiectasia of the skin, Failure to th... ORPHA:79474
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... ORPHA:221016
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X... ORPHA:90340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... OMIM:235400
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Anorect... ORPHA:647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Alström Syndrome
Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Gastr... ORPHA:64
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:614441
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Carney Complex
Neoplasm of the pancreas, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Es... ORPHA:1359
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... OMIM:606721
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive ORPHA:47159
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent pneumonia, Chronic ... ORPHA:158668
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea ORPHA:457279
Dubowitz Syndrome
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... OMIM:223370
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Elevated hemoglobin A1c, Mi... OMIM:619127
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunc... OMIM:263700
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... OMIM:617140
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis ORPHA:79139
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Decreased testicular size OMIM:300953
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circula... OMIM:243800
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Splenomegaly, Chronic diarrhea, Enlarged t... ORPHA:217085
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Splenomegaly, Chronic diarrhea, Enlarged t... ORPHA:217093
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Aspartylglucosaminuria
Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutrop... OMIM:208400
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neopla... ORPHA:77293
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Neonatal dea... OMIM:619534
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Cryptorchidism, Chronic diarrhea, Episodic vomiting, Obesity, Heart murmur, ... OMIM:615873
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Recurrent skin infections, Slender build, Cryptorchidism, Synoviti... ORPHA:3455
Mucopolysaccharidosis Type 2
Hepatomegaly, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Macroglossia, Hypertension, Cardi... ORPHA:580
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... OMIM:619472
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... OMIM:601678
Sacral Defect With Anterior Meningocele
Constipation, Rectal abscess OMIM:600145
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Abno... ORPHA:79318
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... OMIM:241200
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Occipital Horn Syndrome
Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, High palate, Bruising susceptibility OMIM:304150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Failure to thrive in infancy, Gastroparesis, Feedi... ORPHA:500150
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Abnormal circulating enzyme concentration or activity, Prolonge... ORPHA:909
Nmda Receptor Encephalitis
Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Restrictive Dermopathy
Patent ductus arteriosus, Submucous cleft hard palate, Microcolon ORPHA:1662
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovas... 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) Krt83tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Krt83tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Krt83tm1b(KOMP)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Krt83tm1b(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Krt8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Krt8tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Krt8tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Krt8tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Krt8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Krt8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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