Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Rnf208 MGI:1916096

Gene Summary

Name:

ring finger protein 208

Synonyms:

1110061N23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged gallbladder	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alanine transaminase level	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	1.92×10^-09
enlarged heart	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal QT variability	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	3.50×10^-05
increased grip strength	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	5.31×10^-05
increased lung tissue damping	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	8.99×10^-05
increased circulating aspartate transaminase level	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	6.89×10^-11
decreased body weight	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	7.66×10^-06
abnormal heart morphology	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal gallbladder morphology	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased eosinophil cell number	Rnf208^{em1(IMPC)Ccpcz}	HOM	Early adult	4.83×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

View images

X-ray

XRay Images Skull Lateral Orientation

16 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images

X-ray

XRay Images Forepaw

16 Images

View images

X-ray

XRay Images Hind Leg and Hip

32 Images

View images

Human diseases caused by Rnf208 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rnf208 (0 diseases)
Human diseases predicted to be associated with Rnf208 (720 diseases)

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

The table below shows human diseases predicted to be associated to Rnf208 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytope...	OMIM:226990
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype...	OMIM:615387
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:604765
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Vasculitis, Neutropenia in pre...	OMIM:601859
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Weight loss	ORPHA:52416
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Ascites, Splenomegaly, Prolo...	ORPHA:75565
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Chronic hemolytic anemia, Redu...	OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Failure to thrive, Lymph node hypopla...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Iron def...	OMIM:603909
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, ...	OMIM:619802
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Hypovolemic shock, Increased circulating ren...	ORPHA:171876
Cirrhotic Cardiomyopathy	Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent...	ORPHA:57777
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem...	ORPHA:3202
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Immunodeficiency 104	Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop...	OMIM:608971
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Bradycardia, Normochromic anemia, Elevated circulat...	OMIM:618775
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thromboc...	OMIM:603552
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscul...	ORPHA:231222
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged...	ORPHA:398124
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Failure to t...	ORPHA:39041
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea...	OMIM:617388
Roifman Syndrome	Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Failure to thrive, Hepatosplenomegaly, Eosinophilia, Hepatic cysts	OMIM:618999
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Tachycardia, Acute myeloid...	ORPHA:98849
Congenital Toxoplasmosis	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepat...	ORPHA:858
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Muscular Dystrophy, Becker Type	Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia	OMIM:300376
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Abnormal circulating porphyrin concentration...	ORPHA:79278
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Incr...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Hypoalbumin...	ORPHA:2070
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Hepatomegaly, Cholelithiasis, Normochromi...	OMIM:611881
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morph...	ORPHA:54251
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancyto...	ORPHA:77259
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytop...	OMIM:304790
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss	ORPHA:86893
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti...	OMIM:232800
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 88	Eosinophilia	OMIM:619630
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ov...	ORPHA:543
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Atrial septal defect, Prolonged QT interval, Microvesicular hepatic ste...	OMIM:610198
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-...	ORPHA:85451
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Anemia, Abnormal spleen morpholog...	ORPHA:284
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Failure to thrive, Splen...	OMIM:269920
Sickle Cell Anemia	Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr...	ORPHA:79301
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Weight loss, Chronic noninfectious l...	ORPHA:100083
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight l...	OMIM:209950
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Cholelithiasis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure t...	OMIM:620646
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoproteinemia, ...	ORPHA:26793
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells...	ORPHA:169160
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG	OMIM:309930
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Thrombocyto...	OMIM:614034
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:613101
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Decr...	OMIM:614886
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Neutropenia, Lymphadenopathy, Elevated circulating C-reactive prot...	OMIM:308240
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Splenomegaly, Weigh...	ORPHA:545
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, P...	ORPHA:507
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, ...	OMIM:615512
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Microvesic...	OMIM:212140
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema...	ORPHA:171
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Pleural Mesothelioma	Lymphadenopathy, Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Myotonic Dystrophy 1	Atrial flutter, Cholelithiasis, Atrial fibrillation, First degree atrioventricular block, Testicu...	OMIM:160900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration...	OMIM:619040
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Failure to thrive, Hep...	OMIM:618534
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss	ORPHA:42642
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Angina pectoris, Splenome...	ORPHA:79292
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Obesity	ORPHA:88643
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reacti...	OMIM:613011
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Increased c...	OMIM:618886
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Grfoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Ch...	ORPHA:97261
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Patent foramen ovale, Pulmonary a...	OMIM:601005
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hyperuricemia,...	ORPHA:199299
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Exocrine pancr...	OMIM:615952
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Ppoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97278
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemi...	ORPHA:94090
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Rhabdoid Tumor	Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Hypercalcemia, Thrombocytopenia, Weig...	ORPHA:69077
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Pulmonary...	OMIM:619064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, Aplasia of...	OMIM:102700
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le...	ORPHA:45452
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Decr...	OMIM:618495
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Elevated ...	OMIM:619644
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,...	ORPHA:615
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple...	ORPHA:3166
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Vasculitis, Hypertension, Transient ischemic attack, Hyper...	ORPHA:183
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Lymphadeno...	OMIM:267700
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:615895
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly,...	ORPHA:465508
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Pulmonic stenosis, Eosinophilia, Atrial septal defect, Cutaneous abscess	OMIM:618282
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Weight loss, Arrhythmia, Atrioventricular block	ORPHA:85447
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Lymphadenopathy, Elevated c...	ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ovarian neoplasm, Neoplasm of the pancreas, Lymphadenopathy, Abnormal peritoneum mo...	ORPHA:83469
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Elevated circulating hepatic...	ORPHA:829
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Cutaneous abscess, Failure to thrive, Decreased proportion of CD4-positiv...	OMIM:243700
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial e...	OMIM:614702
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegal...	OMIM:609981
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Lymphopenia, Ab...	ORPHA:277
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Failure to thrive, Splen...	ORPHA:397596
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis,...	ORPHA:449395
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Hepatomegaly, Increased circulat...	ORPHA:85443
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c...	ORPHA:231111
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf...	OMIM:618987
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Elevat...	OMIM:300257
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega...	ORPHA:98848
Caspase 8 Deficiency	Lymphadenopathy, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prol...	OMIM:613327
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Righ...	OMIM:232300
Igg4-Related Aortitis	Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:449400
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Weight loss	ORPHA:391
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Vasculiti...	ORPHA:3261
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport...	ORPHA:98850
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Decreased circula...	ORPHA:71212
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra...	ORPHA:90065
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein c...	ORPHA:160
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Epistaxis, Inguinal lymphadenopathy, Abnormal circulating C-reactive protein concentratio...	OMIM:620514
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100080
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Decreased circulat...	OMIM:201475
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypokalemia, Hypertension, Adrenal hyperplasia, Epistaxis, Intracranial he...	ORPHA:251274
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	OMIM:603553
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma...	OMIM:150550
Aspergillosis	Eosinophilia, Hepatitis, Intracranial hemorrhage, Neutropenia	ORPHA:1163
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Niemann-Pick Disease, Type A	Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Pentalogy Of Cantrell	Abnormal pericardium morphology, Tetralogy of Fallot, Absent gallbladder, Atrial septal defect, V...	ORPHA:1335
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Wells Syndrome	Eosinophilia	ORPHA:901
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly	ORPHA:2584
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia	ORPHA:90045
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Congestive heart failure, Decreased HDL cholesterol concentration, Hepa...	ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Heart murmur, Cardio...	ORPHA:99931
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Pancytopenia, Splenic infarcti...	ORPHA:355
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Hyperammon...	OMIM:620609
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Immunodeficiency 23	Vasculitis in the skin, Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, ...	OMIM:615816
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp...	ORPHA:449432
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, Elevated circulating creatine kinase concentration, First degree atrioventricu...	OMIM:310300
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Increased serum bile acid concentration, Cholelithiasis, ...	OMIM:618268
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Lymphopenia, Hypotension, Hyponatremia, Per...	ORPHA:549
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Eo...	ORPHA:449427
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100082
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased body weight, Decreased testicular size, Failure to thrive, Cryptorchidism	OMIM:300534
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Autoimmune hypoparathyroidism, Ventri...	ORPHA:36913
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Coccidioidomycosis	Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Vasculitis, Cerebral ischemia, Granul...	ORPHA:228123
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failur...	OMIM:618048
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir...	ORPHA:540
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr...	ORPHA:3392
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Orchitis, ...	ORPHA:2035
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Thromboc...	OMIM:263700
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Nephroblastoma	Neoplasm of the liver, Hypertension, Lymphadenopathy, Weight loss	ORPHA:654
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, El...	ORPHA:308552
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Pulmonary arterial hypertension	ORPHA:1164
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial...	ORPHA:97287
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Enlarged lacrimal glands, Abnormal ...	ORPHA:797
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ...	OMIM:301078
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis, Asplenia	OMIM:240300
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Mevalonic Aciduria	Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopath...	OMIM:610377
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Pericarditis, Bone marrow ...	ORPHA:47612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Elevated circulating creatine kinase concentration	OMIM:615351
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E...	OMIM:208540
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein conc...	ORPHA:449563
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Netherton Syndrome	Hypereosinophilia, Failure to thrive	OMIM:256500
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated...	OMIM:607330
Dextrocardia	Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality of abdominal situs, Abno...	ORPHA:1666
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Pancreatic aplasia, Absent gallbladder, Small for gestational age, Reduced C-pept...	ORPHA:556955
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Pulmonary arterial hyperte...	OMIM:619051
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Prol...	ORPHA:66634
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia ...	ORPHA:96092
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural...	ORPHA:79124
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Q Fever	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal left...	ORPHA:781
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Meckel Syndrome, Type 7	Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat...	OMIM:267010
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Abnormal circulating cholesterol concentration, Cholelith...	OMIM:213700
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Spontaneous, recurrent epistaxis, A...	ORPHA:2072
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Iron ...	ORPHA:100075
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Lymphopenia	OMIM:617425
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Prolonged QT interv...	ORPHA:94089
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopat...	ORPHA:50918
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Failure to thrive, Enlarged t...	OMIM:308230
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypoparathyroidism, Tricuspid atresia, C...	ORPHA:567
Cardiogenic Shock	Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive...	ORPHA:97292
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Bilateral cryptorchidism, Cardiomegaly, Atrial sep...	OMIM:618652
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymp...	OMIM:617591
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Corneal neovascularization, Cor pulmonale, Melena	OMIM:158310
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Cholelithiasis, Bradycardia, Cardiomegaly, Abnormal c...	ORPHA:97297
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, C...	OMIM:253250
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, H...	OMIM:619573
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis	OMIM:301066
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic steatosis, Hepatomegaly, Heart block, Hyperlipidemia, Elevated circulating creatine kinas...	ORPHA:228308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti...	ORPHA:508533
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Ventricular septal defect, Thrombocytopenia, Intracrani...	ORPHA:163979
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Leukopenia,...	ORPHA:83313
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kinase concentration, Arr...	OMIM:310200
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Cholelithiasis	ORPHA:464738
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic...	OMIM:620376
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy, Weight loss	ORPHA:411703
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Prolonged QTc interval, Cardiac arrest, ...	OMIM:616878
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Weight loss	ORPHA:33276
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi...	OMIM:608836
Meckel Syndrome, Type 6	Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis	OMIM:612284
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Vasculitis...	OMIM:617718
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Tetral...	OMIM:274000
Digeorge Syndrome	Anemia, Cholelithiasis, Hypocalcemia, Truncus arteriosus, Hypoplasia of the thymus, Obesity, Para...	OMIM:188400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Elevated circulating creat...	ORPHA:268
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly	ORPHA:3162
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy, Weight loss	ORPHA:142
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhy...	OMIM:266500
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Ascites,...	ORPHA:36412
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Scrub Typhus	Myocarditis, Lymphadenopathy, Hypotension, Splenomegaly	ORPHA:83317
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ...	OMIM:602782
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Weight loss	ORPHA:2221
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas	ORPHA:3032
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology	ORPHA:512
Histiocytoid Cardiomyopathy	Congestive heart failure, Hepatomegaly, Atrial flutter, Wolff-Parkinson-White syndrome, Cardiomeg...	ORPHA:137675
Congenital Sialidosis Type 2	Hepatomegaly, Ascites, Abnormal heart morphology, Hepatosplenomegaly, Abnormal EKG, Telangiectasia	ORPHA:93400
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Tetralogy of Fallo...	ORPHA:264450
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole...	ORPHA:774
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of the ventricu...	OMIM:615745
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Elevated circulat...	ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Retinal hemorrhage, Eosinop...	OMIM:308300
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Leukopenia, Diffuse alv...	ORPHA:99827
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Episodic hypokalemia, Ventricula...	ORPHA:79102
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Telangiectasia of the ...	ORPHA:99812
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased B cell count, Increased T cell ...	ORPHA:98813
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Prolonged QT interval, Iron deficiency anemia, Hypokal...	ORPHA:358
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e...	OMIM:619632
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Paratracheal ly...	OMIM:615934
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper...	ORPHA:79126
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre...	ORPHA:83617
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Epistaxis, Thrombocytopenia, Wei...	ORPHA:520
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Spontaneous, recurrent epistax...	OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Elevated ...	OMIM:615688
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Splenomegal...	ORPHA:1572
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Left ventricular systolic dysfunction, Ele...	ORPHA:273
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Craniofacioskeletal Syndrome	Hypocalcemia, Ventricular septal defect, Absent gallbladder, Atrial septal defect, Cryptorchidism	OMIM:300712
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertension, Pericardi...	ORPHA:2905
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Autoimmune hemolytic anemia, Impai...	OMIM:301000
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding	ORPHA:424019
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Transient ischemic attack, Failur...	ORPHA:1304
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Elevated circulating creatine kinase concentration, Biliary atresia	ORPHA:565899
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Abetalipoproteinemia	Congestive heart failure, Decreased HDL cholesterol concentration, Cirrhosis, Elevated circulatin...	ORPHA:14
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Lymphadenop...	ORPHA:37042
Fucosidosis	Cardiomegaly, Failure to thrive, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Vasculitis, Peritonitis	ORPHA:343
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Weight loss, C...	ORPHA:514
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Wiskott-Aldrich Syndrome	Hematemesis, Acute leukemia, Anemia, Vasculitis, Abnormal eosinophil morphology, Lymphopenia, Hyp...	ORPHA:906
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Gitelman Syndrome	Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin level, Failure to th...	OMIM:263800
Neuroblastoma	Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia, Weight loss, Increased c...	ORPHA:635
Williams Syndrome	Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, Pulmonic stenosis, Mit...	ORPHA:904
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Decreased body weight, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:608013
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Ventricular septal defe...	ORPHA:3427
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Hypocalcemia, Sin...	ORPHA:466650
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Lymphaden...	ORPHA:33226
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Bradycardia, Reticulocytosis, Hyperammon...	ORPHA:99826
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocyto...	ORPHA:139411
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Congenital hypertrophy of...	OMIM:239850
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Elevated cir...	ORPHA:29073
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Failure to thrive, Aty...	ORPHA:83471
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension	OMIM:268800
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Alkaptonuria	Black pigment gallstones, Abnormal heart valve morphology, Hypertension, Mitral valve calcificati...	ORPHA:56
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotens...	ORPHA:186
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Small for gestational age, Pulmonary arterial hypertension	OMIM:613320
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Prolong...	ORPHA:79444
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Leukocytosis,...	ORPHA:32960
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology	OMIM:184705
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy	ORPHA:391428
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Small for gestatio...	OMIM:616897
Kawasaki Disease	Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Elevated circulating C...	ORPHA:2331
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Elevated circu...	ORPHA:90068
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Trisomy 10P	Absent gallbladder, Abnormal heart morphology, Small for gestational age	ORPHA:171929
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Hypercalce...	ORPHA:143
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Leptospirosis	Hepatomegaly, Jaundice, Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Arrhythmi...	ORPHA:509
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Syncope, Palpitatio...	OMIM:170390
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Abnormal atrial septum morphology, Cholelithiasis	ORPHA:909
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Raynaud phenomenon,...	ORPHA:93552
Cerebral Creatine Deficiency Syndrome 1	Failure to thrive, Prolonged QT interval, Elevated circulating creatine concentration	OMIM:300352
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exocrine pancrea...	OMIM:618500
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Pericardial eff...	ORPHA:199241
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Vasculitis, Hyperte...	OMIM:615846
Mogs-Cdg	Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A...	ORPHA:79330
Multiple Endocrine Neoplasia Type 1	Hematemesis, Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Pituitary growth hormone c...	ORPHA:652
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Farber Disease	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, Intrahepatic ch...	ORPHA:333
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Prolong...	ORPHA:79443
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Increased serum be...	OMIM:252500
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Zttk Syndrome	Aortic regurgitation, Failure to thrive, Absent gallbladder, Atrial septal defect, Ventricular se...	OMIM:617140
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Abnormal cardiovascular system physiology, Lymphadenopathy...	ORPHA:168569
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Tetralogy of Fallot, Complete atrioventricular canal defect	OMIM:617925
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Ventricular septal defect, Polysplenia, Sple...	ORPHA:373
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Pulmonary arterial hypertension, P...	ORPHA:3310
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Prolonged QT interval, Hypocalcemia, Atrial fibrillation,...	ORPHA:31826
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ...	ORPHA:365
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Rett Syndrome	Prolonged QTc interval, Cachexia, Abnormal T-wave	OMIM:312750
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Parathyroid adenoma, Hypercalcemi...	ORPHA:99880
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Intracranial hemorrhage,...	ORPHA:231625
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatome...	OMIM:256040
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Pericarditis, Arrhythmia, Acute...	ORPHA:342
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnorm...	ORPHA:3376
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis, Failure to thrive in infancy, Truncal obesity, Pineal cyst	ORPHA:529962
Dopamine Beta-Hydroxylase Deficiency	Anemia, Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Syncope, Ele...	ORPHA:230
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Bile duct proliferation	OMIM:611134
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo...	OMIM:208000
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Failure to thrive, Splenomegaly, Cardiomegaly	OMIM:230000
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries,...	ORPHA:2869
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Hypertrophic...	ORPHA:648
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Eunuchoid habitus, Mucosal telangiectasiae, Abnormal thymus morphology	ORPHA:2463
Cushing Disease	Hypertension, Lymphopenia, Leukocytosis, Capillary fragility, Increased body weight, Adrenal hype...	ORPHA:96253
Cranioectodermal Dysplasia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangit...	OMIM:613610
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Decreased eosinophil count, Pheochromocytoma, Hypertension, Lymph...	ORPHA:99889
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane...	OMIM:613658
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Aortic regurgitation, Lymphadenopathy, Vasculitis, Cer...	ORPHA:117
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Decreased body weight, Retinal he...	OMIM:620371
Congenital Syphilis	Myocarditis, Pancreatitis, Lymphadenopathy, Anemia, Prolonged neonatal jaundice, Hepatosplenomega...	ORPHA:499009
Dermatomyositis	Myocarditis, Elevated circulating hepatic transaminase concentration, Vasculitis, Abnormal eosino...	ORPHA:221
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Coronary sinus enlargement, Pulm...	OMIM:619472
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia...	ORPHA:466677
Genitopalatocardiac Syndrome	Abnormal cardiac septum morphology, Abnormality of the gallbladder, Abnormal mesentery morphology...	ORPHA:2075
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Bicuspid aortic valv...	OMIM:300855
Congenital Heart Defects, Multiple Types, 9	Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri...	OMIM:620294
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss	ORPHA:52417
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Pulmonary arterial hypertension, Splenomegal...	ORPHA:667
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati...	OMIM:619525
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Elevated circulating hepatic transami...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Elevated circulating hepatic transami...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Elevated circulating hepatic transami...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Elevated circulating hepatic transami...	ORPHA:99226
Dpagt1-Cdg	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT inter...	ORPHA:86309
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Increased circulating gonadotropin level, Prolonged QT interval, Bilateral...	ORPHA:1772
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Ventricular septal defect, Hypop...	ORPHA:436252
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Transient ischemic attack, Abnormal heart morphology, Absent gallbladder, Failur...	ORPHA:500150
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Increased hepatic echogen...	OMIM:147060
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
African Trypanosomiasis	Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolacti...	ORPHA:3385
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmona...	ORPHA:2136
Beckwith-Wiedemann Syndrome	Large for gestational age, Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomeg...	ORPHA:116
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Polycystic liver disease, Bile duct proliferation, Conjugated ...	OMIM:208500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy, Weight loss	ORPHA:85408
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypertension, Ventricular hypertrophy, Mitral val...	ORPHA:363618
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphaden...	OMIM:181000
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia,...	OMIM:607944
Peters-Plus Syndrome	Bilobate gallbladder, Ventricular septal defect, Decreased body weight, Pulmonic stenosis, Biliar...	OMIM:261540
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, Left ventricular...	OMIM:300967
Congenital Tracheomalacia	Pulmonary arterial hypertension, Failure to thrive, Abnormal heart morphology, Tetralogy of Fallo...	ORPHA:95430
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Failure to thrive, Mitral valve prolapse, Cryptorchidism, Abnormal T-wave	ORPHA:444072
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis, Orthostatic hypotension due to autonomic dysfunction	ORPHA:309271
Vacterl/Vater Association	Abnormal cardiac septum morphology, Abnormality of the gallbladder, Abnormality of the pancreas, ...	ORPHA:887
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Arteritis, Chronic active hepatitis, Normochromic anemia, Vas...	ORPHA:289390
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic syst...	ORPHA:538
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Multiple Endocrine Neoplasia Type 2	Pheochromocytoma, Thyroid C cell hyperplasia, Hypertension associated with pheochromocytoma, Hype...	ORPHA:653
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Riddle Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Weight loss, I...	ORPHA:420741
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Elevated amniotic fluid alpha-...	OMIM:249000
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Blau Syndrome	Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Hypertensio...	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto...	OMIM:130650
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Failure to thrive, Cardiac conduction abnormality, Arrhythmia, Abnormal T-wave	ORPHA:2131
Systemic Lupus Erythematosus	Lymphadenopathy, Hypertension, Leukopenia, Raynaud phenomenon, Thrombocytopenia, Weight loss, Hem...	ORPHA:536
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding	ORPHA:424016
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Cryptorchidism, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypophosphatemic rickets, Hypertension, Transient ischemic...	ORPHA:51608
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Ne...	ORPHA:744
Plague	Hematemesis, Hepatomegaly, Hypotension, Lymphadenitis, Splenomegaly, Arrhythmia, Tachycardia, Enl...	ORPHA:707
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abnormal heart valve morphology, Failure to thrive, Atrial septal...	ORPHA:280
Yunis-Varon Syndrome	Severe failure to thrive, Hypertension, Cardiomyopathy, Ventricular septal defect, Pulmonary arte...	ORPHA:3472
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Abnormality of the gallbladder, Ventricular septal defect, Elevate...	ORPHA:818
Chikungunya	Lymphadenopathy, Cervical lymphadenopathy, Epistaxis, Raynaud phenomenon	ORPHA:324625
Neurofibroma	Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland	ORPHA:252183
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hyperlipidemia, Decreased testicular size,...	ORPHA:3464
Woodhouse-Sakati Syndrome	Decreased testicular size, Hyperlipidemia, Abnormal T-wave	OMIM:241080
Singleton-Merten Syndrome 1	Congestive heart failure, Decreased body weight, Mitral valve calcification, Aortic valve stenosi...	OMIM:182250
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992

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 Rnf208

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 Rnf208.

No publications found that use IMPC mice or data for Rnf208.

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
Rnf208^{tm236227(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Rnf208^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Rnf208 MGI:1916096

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Rnf208 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data