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Gene: Pzp MGI:87854

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

PZP, alpha-2-macroglobulin like

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Pzp 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 Pzp (0 diseases)
Human diseases predicted to be associated with Pzp (975 diseases)

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

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

Disease	Matching phenotypes	Source
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Fever	ORPHA:183713
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia	ORPHA:2274
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration	OMIM:300752
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circula...	OMIM:618805
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Fever	ORPHA:319600
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Ataxia, Jaundice	OMIM:613470
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc...	OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Splenomegaly	OMIM:224100
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Eczematoid dermatitis, Decreased liver function	ORPHA:79278
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Gait disturbance, Hepatic steatosis	OMIM:618400
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste...	OMIM:619386
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczematoid dermatitis, Hepatic failure	OMIM:177000
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Flynn-Aird Syndrome	Joint stiffness, Increased bone density with cystic changes, Ataxia, Osteoporosis, Increased bone...	OMIM:136300
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Lethargy, Pancreatitis, Hepatomegaly, Choreoathetosis	ORPHA:79312
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Rft1-Cdg	Hepatomegaly, Failure to thrive, Ataxia	ORPHA:244310
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating lactate de...	ORPHA:158061
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Difficulty walking, Joint stiffness, Thickened cortex of bones, Arthritis	ORPHA:564003
Chylous Ascites	Ascites, Pancreatitis	ORPHA:1160
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Obesity And Hypopigmentation	Red hair, Obesity, Hepatic steatosis	OMIM:620195
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice	OMIM:266200
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Gallbladde...	ORPHA:521219
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Lethargy, Pancreatitis, Choreoathetosis	ORPHA:289916
Mueller-Weiss Syndrome	Sclerosis of foot bone, Difficulty walking, Joint stiffness, Limitation of movement at ankles, Kn...	ORPHA:566943
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly	OMIM:619175
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis	ORPHA:27
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Cholelithiasis, Chronic mucocutaneous candidi...	OMIM:240300
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Failure to thrive in infancy, Osteomyelitis, Pustule, Weight l...	ORPHA:171876
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive	OMIM:620357
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Elevated circulating h...	OMIM:251880
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Adrenal i...	ORPHA:231222
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Frontal balding	OMIM:160900
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:194380
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehyd...	OMIM:231530
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Inc...	ORPHA:2137
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Progressive cerebellar ataxia	ORPHA:67046
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Splenomegaly	OMIM:182900
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Ataxia, Microvesicular hepatic steatosis	OMIM:619273
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati...	OMIM:232700
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Gout, Increased muscle glycogen content	OMIM:232800
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Hepatic steatosis, Failure to thrive	ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function	OMIM:616829
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Hereditary Spherocytosis	Cholelithiasis, Gout, Splenomegaly, Ataxia, Hepatomegaly, Jaundice, Maculopapular exanthema	ORPHA:822
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Abnorma...	OMIM:614886
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Hepatic steatosis, H...	ORPHA:369840
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:619048
Sandhoff Disease	Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Ataxia, Hepatomegaly	ORPHA:796
Multiple Symmetric Lipomatosis	Hepatomegaly, Gait disturbance	ORPHA:2398
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Idiopathic Congenital Hypothyroidism	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:95717
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Hepatomegaly	OMIM:617872
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries, Hepatic steatosis, Membranoproliferative glomerulonephritis, Hirsutism	OMIM:608709
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Glycogen Storage Disease Xii	Cholelithiasis, Cholecystitis, Splenomegaly, Low posterior hairline, Elevated circulating alanine...	OMIM:611881
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly	OMIM:612526
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Shuffling gait, Cholelithiasis, Failure to thrive, Decreased testicular size, Thick eyebrow, Cryp...	OMIM:300534
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Decreased liver function, Exocrine pancreat...	OMIM:618268
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Triosephosphate Isomerase Deficiency	Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun...	OMIM:615512
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis	OMIM:620137
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsutism, Pancreatitis, Hepatom...	ORPHA:2348
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsutism, Cirrhosis, Pancreatit...	ORPHA:79083
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Cholelithiasis, Small for gestational age	OMIM:618775
Propionic Acidemia	Eczematoid dermatitis, Failure to thrive, Lethargy, Pancreatitis, Hepatomegaly	OMIM:606054
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	OMIM:619868
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Cach Syndrome	Hepatosplenomegaly, Limb ataxia, Dysmetria, Optic neuritis, Pancreatitis, Truncal ataxia	ORPHA:135
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis, Ataxia	OMIM:275630
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Acquired Partial Lipodystrophy	Generalized hirsutism, Hepatic steatosis	ORPHA:79087
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Failure to thrive	OMIM:620646
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min...	ORPHA:210110
Morbid Obesity And Spermatogenic Failure	Obesity, Hepatic steatosis	OMIM:615703
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Lethargy, Pancreatitis, Hepatomegaly, Tubulointerstitial nephritis	OMIM:251000
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Difficulty walking, Limb ataxia, Gait disturbance, Pancreatitis, Iridocyclitis, Hypothy...	ORPHA:412057
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Failure to thrive, Decreased liver function	ORPHA:570422
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in...	ORPHA:247585
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Lethargy, Hepatomegaly, Ma...	OMIM:600649
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Lethargy,...	OMIM:212138
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Osteoarthritis	OMIM:606069
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Decreased liver function, Inability to walk, Hepatic steatosis, Ataxia, Hypopi...	ORPHA:70472
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Maple Syrup Urine Disease, Type Ia	Lethargy, Pancreatitis, Ataxia	OMIM:248600
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Aspiration pneumonia, Pancreatitis, Nonprogressive cerebellar ataxia, Choreoat...	ORPHA:431361
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J...	ORPHA:294
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Familial Chylomicronemia Syndrome	Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weight, Recurrent pancre...	ORPHA:444490
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, O...	ORPHA:169160
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co...	ORPHA:33110
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis, Failure to thrive, Brittle hair	OMIM:236200
Alpha-Thalassemia	Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice	ORPHA:846
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:620151
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Metachromatic Leukodystrophy	Gallbladder dysfunction, Gait disturbance, Cholecystitis, Ataxia	OMIM:250100
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia	OMIM:618235
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Congenital Macroglossia	Abnormal hepatic glycogen storage, Hypothyroidism	ORPHA:2430
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Decreased circulating IgE, Hepatitis, Abnormal circulating IgM l...	OMIM:308230
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Ataxia	OMIM:618224
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Hepatic steatosis, Generalized hirsutism, Cirrhosis, Ataxia, Hepatomegaly	ORPHA:363400
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatome...	OMIM:614602
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, H...	OMIM:614921
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Hypocalcemia, Agammaglobulinemia, Recur...	ORPHA:47
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive	OMIM:230350
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome...	ORPHA:890
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Limb ataxia, Gait ataxia, Splenomeg...	OMIM:616719
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Ataxia, Myocarditis, Jaundice, En...	ORPHA:549
Porphyria, Congenital Erythropoietic	Cholelithiasis, Alopecia, Conjunctivitis, Hypertrichosis, Splenomegaly, Loss of eyelashes, Absent...	OMIM:263700
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa...	OMIM:145001
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Carnitine Deficiency, Systemic Primary	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased carni...	OMIM:212140
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Truncal ataxia, Atrioventricular block, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Illum Syndrome	Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Griscelli Syndrome	Hepatitis, Abnormal circulating lipid concentration, Splenomegaly, Hepatomegaly, Jaundice, Decrea...	ORPHA:381
Acquired Generalized Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Generalized hirsutism, Cirrhosis, Hepatomegaly, Panniculit...	ORPHA:79086
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca...	ORPHA:31205
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Acute hepatitis	OMIM:238970
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep...	OMIM:219700
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Obesity, Cholecystitis, Hepatomegaly,...	OMIM:301066
Dysbetalipoproteinemia	Obesity, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis	ORPHA:412
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Incr...	ORPHA:97283
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis	ORPHA:676
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp...	OMIM:607626
Mhc Class Ii Deficiency 1	Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Villous atrophy, Biliary tract abnor...	OMIM:209920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o...	OMIM:616812
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc...	OMIM:619487
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Long eyela...	OMIM:619064
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancreatitis, Trunc...	OMIM:610475
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:201450
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Systemic Capillary Leak Syndrome	Myocarditis, Weight loss, Pancreatitis, Pericarditis	ORPHA:188
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Sparse eyebrow, Recurrent pneumonia, Difficulty walking, Inability to walk, Spars...	ORPHA:464738
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased testi...	OMIM:610198
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Hyperhidrosis, Weight loss, Splenomegaly	ORPHA:86893
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Melioidosis	Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen...	ORPHA:31202
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Failure to thrive	ORPHA:28
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Cerebrotendinous Xanthomatosis	Difficulty walking, Cholelithiasis, Ataxia	OMIM:213700
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi...	ORPHA:2552
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive, Pr...	ORPHA:300536
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Schnitzler Syndrome	Increased bone mineral density, Arthritis, Vasculitis	ORPHA:37748
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi...	OMIM:615710
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Skin rash, Hyperammonemia, Infectious e...	ORPHA:292
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh...	OMIM:618935
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis...	OMIM:610717
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst	OMIM:167800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Osteomyelitis,...	ORPHA:232
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid...	OMIM:620565
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Hypertrichosis, Inability to walk, Cardiomegaly, Severe failure...	ORPHA:97297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Gait disturbance, Cardiomyopathy, Bradycardia	OMIM:609286
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Hepatomegaly	OMIM:269840
Hereditary Elliptocytosis	Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly	ORPHA:288
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,...	OMIM:612714
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis...	ORPHA:98908
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis	OMIM:615996
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis	ORPHA:525
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Hepatic failure, Decreased circulating antibody...	OMIM:308240
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Ascites, Weight loss, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the panc...	ORPHA:370348
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ...	OMIM:615595
Timothy Syndrome	Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr...	OMIM:601005
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep...	OMIM:619013
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, Arthrogryposis multiplex c...	OMIM:232500
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis	ORPHA:70578
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Alopecia, Splenomegaly	ORPHA:100025
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Familial Thyroid Dyshormonogenesis	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:95716
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:237800
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Hypohidrosis, Hepatomegaly	OMIM:615704
Bacterial Toxic-Shock Syndrome	Pneumonia, Hypoalbuminemia, Hepatitis, Fasciitis, Osteomyelitis, Elevated circulating creatinine ...	ORPHA:36234
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia	OMIM:615924
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Skin rash, Splenomegaly	OMIM:105200
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Sup...	ORPHA:83617
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gou...	OMIM:232220
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Loss of ambulation, Splenomegaly, Chilblains	OMIM:615010
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ...	OMIM:614300
Hemochromatosis, Type 2A	Splenomegaly, Lethargy, Cirrhosis, Arthritis, Hepatomegaly	OMIM:602390
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Villous atrophy, Ileus, Erythr...	OMIM:304790
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Lethargy, Atax...	OMIM:246900
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Premature graying of hair, Portal hyp...	OMIM:620367
Congenital Generalized Lipodystrophy	Failure to thrive, Hypertrichosis, Hepatic steatosis, Low anterior hairline, Low posterior hairli...	ORPHA:528
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Adrenomyodystrophy	Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive	ORPHA:977
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Letha...	ORPHA:20
Ebola Hemorrhagic Fever	Lethargy, Maculopapular exanthema, Acute pancreatitis, Hepatitis	ORPHA:319218
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Glycogen Storage Disease Ixb	Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv...	OMIM:269200
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly	ORPHA:42642
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsu...	ORPHA:280365
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi...	OMIM:215600
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Diffic...	ORPHA:98907
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Broad-based gait, Increased bone mineral density	OMIM:616943
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Gout, Pancreatitis, Hepatomegaly, Enlarg...	OMIM:232200
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Bradycardia	OMIM:610015
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Psoriasiform dermatitis, Interface hepati...	OMIM:243150
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi...	OMIM:613313
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis, Parathyroid adenoma	OMIM:145980
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Abdominal obesity	OMIM:615980
Mccune-Albright Syndrome	Hepatitis, Increased circulating prolactin concentration, Increased circulating cortisol level, C...	ORPHA:562
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia	ORPHA:226313
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Skin rash, Sclerosing cholangitis, A...	ORPHA:572
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss	ORPHA:2198
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he...	OMIM:613070
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Increased muscle glycogen content, Increased muscle lipid content, Failure to thrive	OMIM:500009
Periodic Fever, Menstrual Cycle-Dependent	Fever	OMIM:614674
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa...	OMIM:601847
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Increased bone mineral density, Abnormal left ventricular function, Prolo...	ORPHA:36913
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerative colitis, Gout, ...	ORPHA:79259
Tetanus	Stiff neck, Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Osteoporosis,...	OMIM:620351
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas...	ORPHA:276575
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira...	ORPHA:91138
Lipodystrophy, Familial Partial, Type 3	Polycystic ovaries, Cirrhosis, Hepatic steatosis, Hirsutism	OMIM:604367
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia	OMIM:614498
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Abnorma...	ORPHA:228426
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:79322
Lysinuric Protein Intolerance	Failure to thrive, Fine hair, Splenomegaly, Pancreatitis, Truncal obesity, Hepatomegaly, Sparse hair	OMIM:222700
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Metachromatic Leukodystrophy	Tip-toe gait, Gait disturbance, Abnormal gallbladder morphology, Ataxia, Hemobilia, Neoplasm of t...	ORPHA:512
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti...	ORPHA:77293
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma...	ORPHA:90650
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Failure to thrive	OMIM:613561
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Acute Lung Injury	Pneumonia, Acute pancreatitis	ORPHA:178320
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep...	ORPHA:781
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cryptorchidism, Eleva...	OMIM:615381
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly, Episodic...	ORPHA:276556
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Pancreatitis, Myocarditis, Prolonged neonata...	ORPHA:499009
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cryptor...	OMIM:613861
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Tachycardia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Osteoporosis, F...	OMIM:613327
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Splenomegaly, Patchy alopecia, Hepatomegaly, Chronic o...	OMIM:615387
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly	OMIM:607685
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract obstruction,...	ORPHA:100086
Classic Hodgkin Lymphoma	Skin rash, Splenomegaly, Weight loss, Hyperhidrosis, Ataxia, Hepatomegaly	ORPHA:391
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Broad-based gait, Bacterial endocarditis, Abnormality of the sp...	ORPHA:2072
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver function, Elevated...	OMIM:617093
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Failure to thrive, Brittle hair	ORPHA:50812
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase con...	OMIM:614924
Seckel Syndrome 10	Elevated circulating luteinizing hormone level, Elevated circulating aspartate aminotransferase c...	OMIM:617253
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice	OMIM:603552
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr...	ORPHA:449395
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Increased muscle glycogen content, Increased muscle lipid...	ORPHA:254864
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Polycystic ovaries, Hirsutism, Hepatomegaly, Acute pancreatitis	OMIM:151660
Classic Mycosis Fungoides	Alopecia, Eczematoid dermatitis, Skin rash, Splenomegaly, Hepatomegaly	ORPHA:2584
Osteopetrosis, Autosomal Recessive 1	Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran...	OMIM:259700
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Hepatomeg...	OMIM:300400
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Steatorrhea	ORPHA:440713
Fucosidosis	Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hyperhidrosis, H...	ORPHA:349
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Decreased circulating IgA level, Portal hypertension, Splenomegaly, Has...	OMIM:613385
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Free Sialic Acid Storage Disease	Ascites, Failure to thrive in infancy, Splenomegaly, Gait disturbance, Ataxia, Hepatomegaly, Athe...	ORPHA:834
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Increased bone mineral density, Increased bone density with cystic changes...	ORPHA:94089
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:605911
Dyskeratosis Congenita, Autosomal Dominant 1	Oral leukoplakia, Cirrhosis, Interstitial pneumonitis, Hepatic necrosis	OMIM:127550
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Failure to thrive, Abnormality of thyroid physiology, Pancreat...	ORPHA:1830
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Lethargy, Bradycardia	OMIM:617397
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Cirr...	ORPHA:355
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Gaucher Disease, Type Iii	Hepatomegaly, Splenomegaly, Decreased body weight, Ataxia	OMIM:231000
Mu-Heavy Chain Disease	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:100024
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Leth...	ORPHA:2394
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp...	ORPHA:117
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Acute hepatic steatosis, Failure to thrive	OMIM:210200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly, Episodic...	ORPHA:276580
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,...	ORPHA:397596
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet...	OMIM:616263
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Hirsuti...	OMIM:608594
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin...	OMIM:605814
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive, In...	ORPHA:71
Osteogenesis Imperfecta, Type Xiii	Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone...	OMIM:614856
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Lethargy, Hepatic steatosis, Decreased liver function	OMIM:614922
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Generalized hirsutism, Splenomegaly	ORPHA:93476
Cerebrotendinous Xanthomatosis	Cholelithiasis, Hypothyroidism, Gait disturbance, Ataxia, Prolonged neonatal jaundice	ORPHA:909
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly	OMIM:133180
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation test, Recur...	OMIM:307200
Combined Oxidative Phosphorylation Defect Type 39	Loss of ambulation, Tip-toe gait, Congenital foot contractures, Bradycardia	ORPHA:565624
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho...	OMIM:616860
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s...	ORPHA:228305
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Increased muscle lipid content, Splenomegaly, Pancreatitis,...	ORPHA:565612
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R...	ORPHA:53
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Hypopituitarism, Hypersplenism, Hepatosplenome...	ORPHA:231226
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly	OMIM:603902
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:617156
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b...	ORPHA:1782
Bardet-Biedl Syndrome 20	Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Bilateral cryptor...	OMIM:619471
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Cholestasis, Failure to thrive in infancy, Chronic hepatic failure, Left ventricula...	ORPHA:746
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit...	ORPHA:3260
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Decreased circulating IgE, ...	OMIM:300755
Steinert Myotonic Dystrophy	Alopecia, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Falls, Inabili...	ORPHA:273
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Proximal Spinal Muscular Atrophy	Elbow flexion contracture, Difficulty walking, Inability to walk, Multiple joint contractures, Kn...	ORPHA:70
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification	ORPHA:163649
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, E...	OMIM:615356
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami...	OMIM:170100
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:90673
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hepatitis, A...	ORPHA:227990
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Obesity, Splenomegaly, Cryptorchidism, Hypoplasia of the thymu...	ORPHA:567
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Waddling gait	ORPHA:52430
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Encephalitis Lethargica	Stiff neck, Lethargy, Bradycardia	ORPHA:83600
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Hirsuti...	OMIM:269700
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis media, Elev...	OMIM:619381
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Recurrent otitis media, Obesity, Spl...	OMIM:188400
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas...	OMIM:259710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa...	OMIM:618495
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Cirrhosis, Ste...	OMIM:613280
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hepatitis, A...	ORPHA:227982
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Decreased liver function, Gait disturbance, Ataxia, Hepatomegaly, Diffuse hepa...	ORPHA:436271
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov...	ORPHA:298
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Hepatic sinusoidal dilatation, Inability to walk, Long eyelashes, Splenic ...	OMIM:620371
Lysinuric Protein Intolerance	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepa...	ORPHA:470
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly	OMIM:618852
Mucopolysaccharidosis-Plus Syndrome	Nephritis, Recurrent pneumonia, Coarse hair, Inability to walk, Long eyelashes, Splenomegaly, Low...	OMIM:617303
Familial Mediterranean Fever	Erysipelas, Acute hepatic failure, Ascites, Splenomegaly, Skin rash, Orchitis, Peritonitis, Pancr...	ORPHA:342
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Elevated circulating hepatic transaminase concentration, Broad-based gait, Small for ge...	ORPHA:2959
Typhoid	Skin rash, Splenomegaly, Infectious encephalitis, Lethargy, Ataxia, Hepatomegaly	ORPHA:99745
19P13.12 Microdeletion Syndrome	Obesity, Hepatic steatosis, Cryptorchidism, Generalized hirsutism, Hypothyroidism, Synophrys	ORPHA:254346
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodul...	ORPHA:189427
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Hypersplenism, Increased circulating antibody level, Increased c...	ORPHA:3261
Malignant Hyperthermia, Susceptibility To, 5	Malignant hyperthermia, Fever	OMIM:601887
Necrotizing Enterocolitis	Shock, Hypotension, Lethargy, Bradycardia	ORPHA:391673
Rett Syndrome	Failure to thrive, Difficulty walking, Inability to walk, Cholecystitis, Gait disturbance, Bradyk...	ORPHA:778
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis...	ORPHA:79319
Late-Onset Isolated Acth Deficiency	Pituitary adenoma, Hepatitis, Hyperuricemia, Hashimoto thyroiditis, Hyponatremia, Adrenocorticotr...	ORPHA:199299
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa...	ORPHA:73263
Wolman Disease	Hepatic failure, Ascites, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomegaly	ORPHA:75233
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Pancreatic is...	ORPHA:263455
Niemann-Pick Disease, Type A	Failure to thrive, Ascites, Elevated circulating aspartate aminotransferase concentration, Inabil...	OMIM:257200
Coccidioidomycosis	Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ...	ORPHA:228123
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormality of temperature regulation, Heat intolerance	ORPHA:2926
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:435660
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Splenomegaly, Hypothyroidism, Erythroderma, Aplasia/Hypop...	ORPHA:39041
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepa...	OMIM:618278
Immunodeficiency 54	Failure to thrive, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormone excess, Hepat...	OMIM:609981
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Splenomegaly, Dystrophic fingernails, Patchy alop...	ORPHA:2930
Griscelli Syndrome Type 2	Premature graying of hair, Splenomegaly, Hepatomegaly, Jaundice, Hypopigmentation of hair	ORPHA:79477
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Hepato...	OMIM:607594
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiom...	OMIM:235200
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:36426
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi...	OMIM:131300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles...	OMIM:261515
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Primary hyperparathyroidism	OMIM:600740
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:537
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Frontal balding, Cryptorchidism, Synophrys	ORPHA:96092
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:615085
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:3376
Propionic Acidemia	Hepatomegaly	ORPHA:35
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, ...	ORPHA:2780
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomegaly...	ORPHA:83469
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Melas	Failure to thrive, Hypertrichosis, Recurrent pancreatitis, Hypothyroidism, Gait disturbance, Atax...	ORPHA:550
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Aplasia of the thymus, Atypical or prolong...	ORPHA:83471
Werner Syndrome	Congestive heart failure, Joint stiffness, Myocardial infarction, Telangiectasia of the skin, Ost...	ORPHA:902
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce...	OMIM:607330
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis, Pericarditis, An...	ORPHA:85414
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev...	ORPHA:48435
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Limited hip extension, Hyperte...	OMIM:614653
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619481
Mucopolysaccharidosis, Type Iiib	Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Synophrys	OMIM:252920
Pyruvate Carboxylase Deficiency	Hepatomegaly, Athetosis	OMIM:266150
Majeed Syndrome	Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ...	ORPHA:77297
Galactosemia I	Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc...	OMIM:230400
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Lethargy, Hepatic failure, Elevated circulating hepatic transaminase concentration	ORPHA:156
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Elevated...	ORPHA:2331
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis	ORPHA:589
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Decreased testicular size, Alopecia of scalp, Splenomegaly, Lethargy, Ataxia, ...	OMIM:201100
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:212065
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures	OMIM:239000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:608836
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
Igg4-Related Ophthalmic Disease	Keratitis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatit...	ORPHA:449563
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly	OMIM:615630
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	ORPHA:367
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Hepatitis	ORPHA:1334
Abetalipoproteinemia	Hepatic fibrosis, Broad-based gait, Elevated circulating hepatic transaminase concentration, Fail...	ORPHA:14
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Chore...	ORPHA:445038
Alstrom Syndrome	Nephritis, Alopecia, Elevated circulating hepatic transaminase concentration, Recurrent pneumonia...	OMIM:203800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis...	ORPHA:99901
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Increased intramyocellular lipid droplets, Ataxia, H...	OMIM:220110
Biotinidase Deficiency	Alopecia, Splenomegaly, Skin rash, Lethargy, Seborrheic dermatitis, Ataxia, Hepatomegaly, Conjunc...	OMIM:253260
Garg-Mishra Progeroid Syndrome	Sparse hair, Microvesicular hepatic steatosis	OMIM:620601
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Monoclonal ...	ORPHA:91139
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ataxia, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to ...	OMIM:124000
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Argininosuccinic Aciduria	Ataxia, Hepatic fibrosis, Dry hair, Failure to thrive, Trichorrhexis nodosa, Elevated circulating...	OMIM:207900
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Pancreatic aplasia	ORPHA:556955
Glycogen Storage Disease Ic	Inflammation of the large intestine, Chronic pancreatitis, Gout, Hepatoblastoma, Hepatomegaly, St...	OMIM:232240
Farber Lipogranulomatosis	Hepatomegaly, Failure to thrive, Splenomegaly, Arthritis	OMIM:228000
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Psoriasiform derma...	ORPHA:436252
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocutaneous can...	ORPHA:391487
Granulomatosis With Polyangiitis	Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, Pancreatitis,...	ORPHA:900
Mucopolysaccharidosis Type 7	Splenomegaly, Hepatitis	ORPHA:584
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Splenomegaly	OMIM:615631
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, EBV encephalitis, Hepatomegaly, U...	OMIM:615122
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Increased skull ossification, Difficulty walking, Osteopetrosis, Ata...	OMIM:618476
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:618329
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly	ORPHA:98848
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Nodular Non-Suppurative Panniculitis	Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis	ORPHA:33577
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly	OMIM:618107
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Central hypothyroidism, Acute hepatic fa...	ORPHA:1667
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis, Hepatomegaly, Conjunctiviti...	OMIM:142680
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Weight loss, P...	ORPHA:143
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Juvenile Sialidosis Type 2	Ataxia, Visceromegaly, Hepatosplenomegaly, Dysmetria, Loss of ambulation, Generalized hypertricho...	ORPHA:93399
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Sézary Syndrome	Alopecia, Nail dystrophy, Splenomegaly, Erythroderma, Hepatomegaly	ORPHA:3162
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis	OMIM:619375
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ...	OMIM:611126
Immunodeficiency 32B	Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Bronchiectasis	OMIM:226990
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ...	ORPHA:93126
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosis, Lethargy, Ch...	ORPHA:465508
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly, Obesity, Ataxia	OMIM:612291
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis,...	ORPHA:728
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Decreased response to growth hormone stimulation test, Skin rash, Arthritis...	ORPHA:1855
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Lethargy, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest	OMIM:277400
Metachromatic Leukodystrophy, Late Infantile Form	Progressive gait ataxia, Tip-toe gait, Gait ataxia, Cholecystitis	ORPHA:309256
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Mucopolysaccharidosis, Type Iiia	Coarse hair, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys	OMIM:252900
Monosomy 13Q34	Obesity, Horizontal eyebrow, Hepatic steatosis	ORPHA:96168
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Gait ataxia, Increased hepatic glycogen content, Cardiomegaly, Gait disturbance, Ata...	OMIM:619259
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash	OMIM:601979
Harderoporphyria	Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly	OMIM:618892
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
Leptospirosis	Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He...	ORPHA:509
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Conjunctivitis, Parotitis, Ascites, Morbilliform rash, Adrenal insufficiency, Ch...	ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Arthrogryposis...	OMIM:618397
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:90674
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Pycnodysostosis	Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized...	ORPHA:763
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insuff...	ORPHA:2255
Williams Syndrome	Cholelithiasis, Failure to thrive in infancy, Obesity, Gait imbalance, Cryptorchidism, Dysmetria,...	ORPHA:904
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture...	OMIM:224300
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:348
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid...	ORPHA:436159
Reynolds Syndrome	Xerostomia, Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, A...	ORPHA:779
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Pathologic fracture, Intermittent claudication, Rayna...	OMIM:259900
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Osteopetrosis	OMIM:612840
Aa Amyloidosis	Cholestasis, Adrenal insufficiency, Hypothyroidism, Hepatomegaly, Enlarged kidney	ORPHA:85445
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Hepatic steatosis, Choreoathetosis, Ataxia	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Failure to thrive, Osteomyelitis, Arthritis, Hepatomegaly	OMIM:619423
Aromatase Deficiency	Obesity, Eunuchoid habitus, Hepatic steatosis, Cryptorchidism, Enlarged polycystic ovaries, Gener...	ORPHA:91
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Failure to thrive, Cholestatic liver disease	ORPHA:5
Alkaptonuria	Black pigment gallstones, Prostatitis, Hypothyroidism, Osteoarthritis, Arthritis	ORPHA:56
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Le...	OMIM:229600
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly, Pericarditis	ORPHA:163596
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Pancreatitis, Parathyroid adenoma, Te...	ORPHA:99880
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hep...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins...	ORPHA:699
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Pancreatitis, Acute colitis	ORPHA:90038
Marburg Hemorrhagic Fever	Uveitis, Elevated circulating hepatic transaminase concentration, Skin rash, Orchitis, Lethargy, ...	ORPHA:99826
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki...	ORPHA:309854
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Microvesicular...	ORPHA:66634
Gaucher Disease Type 3	Increased susceptibility to fractures, Gait disturbance, Pulmonary arterial hypertension, Ataxia,...	ORPHA:77261
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Hepatomegaly, Th...	OMIM:617388
Lujo Hemorrhagic Fever	Hypotension, Stiff neck, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage	ORPHA:319213
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Splenomegaly, Crohn's disease...	OMIM:616100
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Metachromatic Leukodystrophy, Adult Form	Difficulty walking, Cholecystitis, Abnormal glycosphingolipid metabolism, Progressive gait ataxia...	ORPHA:309271
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Lethargy, Small for gestational age	OMIM:307030
Felty Syndrome	Recurrent pneumonia, Episcleritis, Splenomegaly, Synovitis, Weight loss, Arthritis, Sinusitis, He...	ORPHA:47612
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis	OMIM:619652
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly	OMIM:618541
Metachromatic Leukodystrophy, Juvenile Form	Progressive gait ataxia, Cholecystitis, Abnormal glycosphingolipid metabolism	ORPHA:309263
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hepatomegaly	OMIM:602579
Erdheim-Chester Disease	Congestive heart failure, Osteomyelitis, Ataxia, Increased bone mineral density, Osteolysis	ORPHA:35687
Bloom Syndrome	Small for gestational age, Hypertrichosis, Malar rash, Hepatic steatosis, Cryptorchidism, Bronchi...	OMIM:210900
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism	ORPHA:2075
Fish-Eye Disease	Hepatomegaly, Splenomegaly	ORPHA:79292
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Listeriosis	Pneumonia, Arteritis, Septic arthritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious ...	ORPHA:533
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Ataxia	OMIM:610688
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper...	ORPHA:94093
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Elevated circulating hepatic transaminase concentration, Portal hypertensi...	ORPHA:1454
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion contracture, Gait d...	ORPHA:800
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Small for gestational age, Cholestasis, Ascites, Elevated ci...	OMIM:619573
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Joint hypermobility	OMIM:261990
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Hepatomegaly, Tubulointe...	ORPHA:228308
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Skin ra...	OMIM:617591
Dengue Fever	Hepatomegaly, Lethargy, Skin rash, Ascites	ORPHA:99828
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Primary Sjögren Syndrome	Biliary cirrhosis, Xerostomia, Arteritis, Parotitis, Chronic hepatitis, Lymphocytic interstitial ...	ORPHA:289390
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, In...	ORPHA:17
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Hepatic cysts, Intermittent jau...	ORPHA:100085
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Failure to thrive, Gait ataxia, Dysmetria, Recurrent pancreatitis, Spa...	OMIM:606721
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv...	ORPHA:540
Citrullinemia, Classic	Failure to thrive, Lethargy, Cirrhosis, Ataxia, Hepatomegaly	OMIM:215700
Trisomy 8P	Low posterior hairline, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism	ORPHA:264450
Niemann-Pick Disease, Type C1	Fetal ascites, Gait ataxia, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaun...	OMIM:257220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Failure to thrive, Alopecia of scalp, Splenomegaly, Otitis media, Aplasia of the thymu...	OMIM:602450
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Hepatomegaly, Bronchiectasis, Uveitis	OMIM:612387
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th...	OMIM:613658
Trichothiodystrophy	Osteopenia, Cardiomyopathy, Gait ataxia, Multiple joint contractures, Craniosynostosis, Increased...	ORPHA:33364
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Failure to thrive in infanc...	ORPHA:247598
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Arthritis, Ataxia, Hepatomegaly	ORPHA:343
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Failure ...	OMIM:619525
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis	ORPHA:544482
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count	OMIM:259720
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent cutaneous f...	ORPHA:276
Argininemia	Spastic gait, Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly	OMIM:207800
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated hepatic iron concentration	OMIM:615234
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Hypertension, Prolonged QT interval, Increased bone mineral density, Reduce...	ORPHA:79443
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Failure to thrive, Fine hair, Cholestasis, Trichorrhexis nodos...	OMIM:222470
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Hepatomegaly, Stom...	OMIM:612852
Poems Syndrome	Sclerosis of foot bone, Sclerosis of skull base, Pulmonary arterial hypertension, Sclerosis of ha...	ORPHA:2905
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Splenomegaly, Hypohidrosis, Anhidrosis, Hepatomegaly, Sparse hair, Sparse scal...	OMIM:612132
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Panniculitis, Splenomegaly, Myositis	OMIM:619183
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous ...	OMIM:233600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:26793
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Generalized osteosclerosis, Raynau...	ORPHA:416
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis...	ORPHA:379
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy	OMIM:229700
Familial Hypocalciuric Hypercalcemia	Pancreatitis	ORPHA:405
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Cholestasis, Recurrent otitis media, Lethargy, Hepatomegaly, Bronchiectasis	OMIM:620233
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly	OMIM:243910
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Scorpion Envenomation	Elevated circulating aspartate aminotransferase concentration, Hyperhidrosis, Ataxia, Myocarditis...	ORPHA:466677
Overhydrated Hereditary Stomatocytosis	Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly	OMIM:185000
Vacterl/Vater Association	Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:887
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de...	ORPHA:90652
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Syndromic Diarrhea	Hepatic fibrosis, Trichorrhexis nodosa, Abnormality of the liver, Splenomegaly, Hypoplasia of the...	ORPHA:84064
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Incr...	ORPHA:97282
Chediak-Higashi Syndrome	Silver-gray hair, Periodontitis, Splenomegaly, Gait disturbance, Ataxia, Hepatomegaly, Jaundice, ...	OMIM:214500
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios...	ORPHA:89936
Peroxisome Biogenesis Disorder 4B	Decreased liver function, Adrenal insufficiency, Gait disturbance, Ataxia, Hepatomegaly	OMIM:614863
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Jaundice, Splenomegaly	OMIM:616689
Alström Syndrome	Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,...	ORPHA:64
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Delayed proximal femoral epiphyseal ossification, Bradycardia	ORPHA:226307
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Recurrent pneumonia, Cholestasis, Ascites, Hepatosplenomeg...	ORPHA:731
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Bradycardia	OMIM:218700
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Skin rash,...	ORPHA:99829
Raine Syndrome	Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation	OMIM:259775
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low posterior hairline, Absent gallbladder	OMIM:617925
Zttk Syndrome	Sparse eyebrow, Failure to thrive, Absent gallbladder, Broad eyebrow, Curly hair	OMIM:617140
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Increased bone mineral density, Ectopic ossification	ORPHA:79444
Transcobalamin Ii Deficiency	Hepatomegaly, Lethargy, Failure to thrive, Ataxia	OMIM:275350
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233710
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Hepatic steatosis	OMIM:619934
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Incr...	ORPHA:97280
Trisomy 10P	Absent gallbladder, Small for gestational age	ORPHA:171929
Myelofibrosis	Hepatomegaly, Splenomegaly	OMIM:254450
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Failure to thrive, Biliary atresia	OMIM:600001
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc...	OMIM:557000
Occipital Horn Syndrome	High, narrow palate, Hepatitis, Cholestasis, Esophagitis, Hiatus hernia, Jaundice	ORPHA:198
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity	OMIM:619321
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:881
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:619475
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Spl...	OMIM:233690
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	ORPHA:163979
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Primary hypothyroidism	ORPHA:96176
1P36 Deletion Syndrome	Annular pancreas, Horizontal eyebrow, Failure to thrive, Abnormality of the spleen, Abnormality o...	ORPHA:1606
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Cry...	OMIM:619503
Bardet-Biedl Syndrome	Ataxia, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic trans...	ORPHA:110
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Increased bone mineral density	OMIM:127000
Atypical Werner Syndrome	Aortic valve stenosis, Limitation of joint mobility, Sclerosis of hand bone, Congestive heart fai...	ORPHA:79474
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Large for gestational age, Elevated circulating hepatic transaminase concentration	OMIM:616026
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Atopic dermatitis, Conjunctivitis, Failure to thrive, Parotitis, Cholestasis, E...	OMIM:620376
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Prolonged neonatal jaundice, Small for gestational age, Splenomegaly	OMIM:224120
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acut...	OMIM:276700
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, High anterior hairline, Failure to thrive, Abdominal situs inversus, Abnor...	ORPHA:280
Hereditary Fructose Intolerance	Chronic hepatic failure, Lethargy, Hepatomegaly, Jaundice, Episodic hyperhidrosis	ORPHA:469
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Splenome...	OMIM:613471
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Seborrheic dermatitis, El...	OMIM:300868
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Desmosterolosis	Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita	OMIM:602398
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly, Hypohidrosis, Ataxia, Hepat...	ORPHA:163746
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Tetrasomy 9P	Absent gallbladder, Glue ear, Cryptorchidism, Biliary atresia, Myositis, Arthritis, Jaundice, Per...	ORPHA:3310
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Familial Tumoral Calcinosis	Hepatomegaly, Hyperhidrosis, Skin rash, Splenomegaly	ORPHA:53715
Severe Generalized Junctional Epidermolysis Bullosa	Osteoporosis, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density	ORPHA:50945
Cranioectodermal Dysplasia 2	Sparse eyebrow, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary...	OMIM:613610
Gaisböck Syndrome	Obesity, Overweight, Gout, Cholecystitis	ORPHA:90041
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Nail dystrophy, Left ven...	OMIM:619127
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hepa...	OMIM:270400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Failure to thrive, Dysmetria, Low anterior hairline, Microvesicular hepati...	OMIM:220111
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Ascites, Osteomyel...	OMIM:306400
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Joint hypermobility, Pulmonary arterial hypertension, Bradycardia, Pulmo...	OMIM:614437
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Ogden Syndrome	Sparse eyebrow, Eczematoid dermatitis, Fine hair, Recurrent otitis media, Decreased testicular si...	OMIM:300855
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Failure to thrive in infancy, Broad lateral eyebrow, Absent gallbladder, Curly hair	ORPHA:500150
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Increased circulating prolactin concentration, Recurrent otitis media, Decreas...	ORPHA:3455
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Peters-Plus Syndrome	Facial hypertrichosis, Cryptorchidism, Decreased body weight, Biliary tract abnormality, Bilobate...	OMIM:261540
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Sinus bradycardia	OMIM:619482
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Abnormality of the gallbladder, Cryptorchidism, Hypopigmentation of ...	ORPHA:818
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, R...	ORPHA:667
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Osteopetrosis, Recurrent fractures	ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome	Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones	OMIM:269150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Biliary cirrhosis, Failure to thrive, Cholestasis, Ascites, Elevated circulatin...	OMIM:619534
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Limited elbow extension, ...	OMIM:142900
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Cryptorchidism, Aspleni...	OMIM:249000
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665

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 Pzp

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 Pzp.

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

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MGI Allele	Allele Type	Produced
Pzp^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pzp^{tm373841(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pzp^{tm43701(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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