Gene: Sirt7 MGI:2385849

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sirtuin 7

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 Sirt7 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 Sirt7 (0 diseases)
Human diseases predicted to be associated with Sirt7 (1543 diseases)

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

The table below shows human diseases predicted to be associated to Sirt7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Obesity, Polyphagia	ORPHA:329249
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased muscle lipid content...	OMIM:610717
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal...	OMIM:607765
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat...	ORPHA:158061
Obesity And Hypopigmentation	Polyphagia, Hepatic steatosis, Obesity	OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Hypertriglyceridemia, Hepatic steatosis, Obesity	OMIM:615703
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity	ORPHA:71529
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	OMIM:620357
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Polyphagia, Obesity, Cholestasis, Failure to thrive, Childhood-onset tr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Polyphagia, Obesity, Cholestasis, Failure to thrive, Childhood-onset tr...	ORPHA:71526
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls...	ORPHA:209902
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Hyperl...	OMIM:300718
Rft1-Cdg	Hepatomegaly, Failure to thrive, Arthrogryposis multiplex congenita	ORPHA:244310
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Elevated cir...	OMIM:214900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to...	OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Anemia, Conjunctivitis, He...	OMIM:603552
Niemann-Pick Disease, Type B	Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decre...	OMIM:607616
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen...	OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomega...	ORPHA:169160
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis	OMIM:615238
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Left ventricular diastolic dysfu...	ORPHA:171445
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen...	OMIM:300696
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis	ORPHA:79085
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Multiple Symmetric Lipomatosis	Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ...	ORPHA:369
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hepatic failure, Hepatic steatosis	OMIM:617872
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol...	ORPHA:71
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Progressive loss of facial adipose tissue, Loss of trun...	OMIM:608709
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy	ORPHA:79084
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:609308
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa...	OMIM:235555
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir...	ORPHA:101330
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Neutropenia, Hepatitis, Bronchiec...	ORPHA:33110
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul...	OMIM:605814
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Spinal rigid...	OMIM:620386
Myopathy, Distal, 1	Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Elevated circula...	OMIM:160500
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Lipodystrophy, Hepatic steatosis, Abdominal obesity	OMIM:615980
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver...	ORPHA:570422
Ethanolaminosis	Cardiomegaly	OMIM:227150
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Con...	ORPHA:206546
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Failure to thrive	OMIM:230350
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hepat...	OMIM:619013
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterol...	OMIM:306000
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom...	OMIM:255100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:604367
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Re...	ORPHA:47
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp...	ORPHA:247585
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy...	OMIM:611182
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit...	ORPHA:3111
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop...	ORPHA:39812
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Splenomegaly,...	ORPHA:829
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Polyphagia	ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala...	OMIM:619386
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive	ORPHA:67046
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive	OMIM:614602
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Polypha...	ORPHA:276575
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis	ORPHA:26792
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Lipodystrophy, Hepatic steatosis	ORPHA:300536
Sandhoff Disease	Splenomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive, Hepatomegaly	ORPHA:796
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Centra...	ORPHA:86812
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Large for gestational age, Agitation, Polyphagia	ORPHA:324575
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Anorexia, Hepatomegaly	ORPHA:86893
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites	ORPHA:890
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Polyphagia, Obesity, Cholestasis	OMIM:609734
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi...	ORPHA:440713
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, A...	OMIM:304790
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hypercholester...	ORPHA:528
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver...	ORPHA:65682
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Polyphagia	ORPHA:276580
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity	OMIM:617885
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat...	OMIM:600175
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus...	OMIM:617591
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ...	ORPHA:98911
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Failure to thrive, Splenomegaly, Hepati...	OMIM:308230
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Decreased liver function, Dysphagia, Failu...	ORPHA:70472
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failu...	ORPHA:75233
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inf...	OMIM:619858
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:151660
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr...	ORPHA:69663
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr...	OMIM:600649
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Ascites,...	ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Abnormal lactate dehydrogena...	ORPHA:42
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen...	ORPHA:444490
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Thoracic scoliosis, Elevated circulating ...	OMIM:255160
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva...	ORPHA:399086
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thri...	OMIM:300972
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila...	ORPHA:34515
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Hepatic fibrosis	OMIM:232400
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu...	OMIM:616471
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly	OMIM:238970
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Thick eyebrow, Elevated circulating creatine kinase concentration, Kypho...	OMIM:300280
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Dysphagia, Weight loss	ORPHA:2198
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Combined Saposin Deficiency	Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly	OMIM:611721
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Hyperactivity, Keratitis, Splenomegaly...	ORPHA:525731
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila...	ORPHA:154
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis, Attention deficit hyperactivity disorder	ORPHA:210548
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Myopathy, Myofibrillar, 6	Thoracic scoliosis, Scapular winging, Elevated circulating creatine kinase concentration, Facial ...	OMIM:612954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:613327
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia	OMIM:618752
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98855
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Hepato...	ORPHA:158057
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Childhood-Onset Nemaline Myopathy	Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz...	ORPHA:171439
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Dysphagia, Failure to thrive	OMIM:613561
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula...	ORPHA:293964
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98853
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Legionnaires Disease	Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Cellulitis,...	ORPHA:549
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Adult-Onset Nemaline Myopathy	Flexion contracture, Dilated cardiomyopathy, Paraproteinemia, Increased muscle lipid content, Upp...	ORPHA:171442
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Dysphagia, Hepatomegaly	ORPHA:77260
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Scolios...	OMIM:616276
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:610198
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Atrioventricular block...	ORPHA:98863
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Obesity, Gout, Xanthelasma, Hypercholeste...	ORPHA:412
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Colitis, Hemophagocytos...	OMIM:613101
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Secondary Short Bowel Syndrome	Enterocolitis, Cholestasis, Weight loss, Steatorrhea, Failure to thrive, Polyphagia	ORPHA:95427
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Recu...	OMIM:203800
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:619040
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Jaundice, Hepatosplenomeg...	ORPHA:79333
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Anemia	ORPHA:100024
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Abnormal cir...	OMIM:617336
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He...	OMIM:308240
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,...	ORPHA:53035
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o...	ORPHA:91138
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:1354
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, ...	ORPHA:79086
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Increased circulating ferritin concentration, Dilated car...	OMIM:602390
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:98896
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Spinal canal stenosis, Cardiomyopath...	ORPHA:93476
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Inc...	OMIM:617404
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Dysphagia, Lymphopenia, Throm...	ORPHA:319218
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Polyphagia, Obesity	OMIM:614962
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive	OMIM:613861
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Pulmonary embolism, Con...	ORPHA:1345
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:66661
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur...	OMIM:614300
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis	ORPHA:111
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa...	ORPHA:228305
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Hepatomegaly, Failure to thrive, Increased muscle lipid content	OMIM:500009
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa...	ORPHA:454836
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ...	OMIM:619487
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor...	ORPHA:186
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,...	OMIM:619418
Medullary Thyroid Carcinoma	Weight loss, Dysphagia, Abnormal liver parenchyma morphology	ORPHA:1332
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera...	OMIM:228000
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture, Myopathy	OMIM:618237
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Eosinophilia, Anorexi...	ORPHA:199299
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Arrhythmia, Camptodactyly	OMIM:618453
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati...	ORPHA:79322
Babesiosis	Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Th...	ORPHA:108
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus...	OMIM:615290
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Anemia	ORPHA:28
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity	ORPHA:66628
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mas...	ORPHA:98848
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Throm...	ORPHA:79312
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope...	ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure	OMIM:177000
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Infectious ...	ORPHA:2552
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He...	OMIM:231530
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Dysphagia	OMIM:618958
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri...	OMIM:609452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Lichen Planopilaris	Hepatitis	ORPHA:525
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Obesity	ORPHA:179494
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Facial palsy,...	OMIM:615084
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,...	ORPHA:36234
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr...	OMIM:616827
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity	OMIM:618406
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Weight loss	ORPHA:50251
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating lactate ...	ORPHA:247598
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Dysphagia, Ha...	ORPHA:589
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Patent ductus arteriosus, Flexion contracture, Low anterior hairline, Synop...	OMIM:618658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l...	OMIM:613155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Hemochromatosis, Type 3	Hyperpigmentation of the skin, Increased circulating ferritin concentration, Cardiomyopathy, Neut...	OMIM:604250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level...	ORPHA:71212
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Increased vari...	OMIM:613752
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf...	OMIM:277900
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:310200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase...	OMIM:619424
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m...	OMIM:619705
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa...	ORPHA:79259
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis	OMIM:207750
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concent...	OMIM:617253
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros...	OMIM:201475
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, Abnormal repetitive man...	OMIM:615637
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent ot...	ORPHA:397596
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Inappropriate laughter, Obesity	ORPHA:411515
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase...	ORPHA:99901
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinop...	ORPHA:329336
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
19P13.12 Microdeletion Syndrome	Hyperactivity, Hyperlipidemia, Obesity, Self-injurious behavior, Arthrogryposis multiplex congeni...	ORPHA:254346
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Scoliosis, Lower lim...	ORPHA:1177
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function	OMIM:246900
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Scoliosis	ORPHA:79327
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive	ORPHA:2089
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact...	OMIM:615547
Obesity Due To Sim1 Deficiency	Polyphagia, Obesity, Attention deficit hyperactivity disorder	ORPHA:369873

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