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 (1566 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	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid...	OMIM:232700
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	OMIM:616829
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Reduced subcutane...	OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoim...	ORPHA:444463
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcuta...	ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Obesity And Hypopigmentation	Polyphagia, Obesity, Hepatic steatosis	OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin...	OMIM:619868
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:618400
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Polyphagia, Childhood-onset truncal obesity, Hypertriglyceridemia, Increased adipose tissue	ORPHA:71529
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H...	ORPHA:158061
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive	OMIM:620357
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Morbid Obesity And Spermatogenic Failure	Obesity, Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia	OMIM:615703
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia...	ORPHA:209902
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Obesity, Polyphagia, Childhood-onset truncal obesity, Increased a...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Obesity, Polyphagia, Childhood-onset truncal obesity, Increased a...	ORPHA:71526
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Rft1-Cdg	Hepatomegaly, Arthrogryposis multiplex congenita, Failure to thrive	ORPHA:244310
Lipodystrophy, Familial Partial, Type 4	Lipodystrophy, Lipoatrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Ankle flexion contracture, Increased variability in muscle fiber diameter, Dilated cardiomyopathy...	OMIM:608099
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:619048
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Hypertriglyceridemia, Skin rash, Anemia, Neutrope...	OMIM:603552
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy...	OMIM:607616
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L...	ORPHA:169160
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu...	OMIM:608971
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Skeleta...	OMIM:300696
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat...	ORPHA:171445
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Pancytopenia, Hepatic steatosis, Hepatomegaly	OMIM:617872
Multiple Symmetric Lipomatosis	Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H...	OMIM:620151
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hyp...	ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat...	OMIM:615381
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Acquired Partial Lipodystrophy	Lymphocytosis, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly	ORPHA:79085
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi...	ORPHA:60
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circul...	OMIM:618805
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase...	OMIM:608600
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue...	OMIM:608709
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy	ORPHA:79084
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular...	OMIM:619566
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase co...	OMIM:609308
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Autosomal Agammaglobulinemia	Cellulitis, Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash, Sinusitis, Ne...	ORPHA:33110
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration	OMIM:602114
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatosplenomegaly, H...	OMIM:619013
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Increased intraabdominal fat, Hepatic steatosis, Loss o...	ORPHA:435660
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypercholesterolemia, Hype...	OMIM:306000
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Spinal rigidity, Left anterior ...	OMIM:181350
Ethanolaminosis	Cardiomegaly	OMIM:227150
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Hyperlipidemia, Hepatic steatosis, Abdominal obesity	OMIM:615980
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati...	ORPHA:570422
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to t...	OMIM:605814
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc...	OMIM:255100
X-Linked Agammaglobulinemia	Cellulitis, Recurrent pneumonia, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Ski...	ORPHA:47
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir...	ORPHA:2137
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice	OMIM:230350
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi...	OMIM:615207
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in...	ORPHA:247585
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tiss...	OMIM:604367
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Hemochromatosis, Type 4	Hepatic steatosis, Anemia, Cirrhosis, Osteoarthritis, Hepatomegaly	OMIM:606069
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen...	OMIM:615285
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Polyphagia, Hepatomegaly, Agitation	ORPHA:276556
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Pancreatitis, E...	OMIM:619386
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive	ORPHA:67046
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas...	ORPHA:276575
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Trichohepatoenteric Syndrome 2	Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age	OMIM:614602
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ...	OMIM:609500
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Li...	ORPHA:300536
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Eos...	OMIM:304790
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Failure to thrive	ORPHA:26792
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal glycosphingolipid metabolism	ORPHA:796
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Polyphagia, Hepatomegaly, Small for gestational age, Agitation	ORPHA:324575
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:301075
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaire...	OMIM:269840
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Anorexia	ORPHA:86893
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome...	ORPHA:890
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Inguinal hernia, Hypochro...	ORPHA:440713
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased circulating cortisol level, Obesity, Polyphagia	OMIM:609734
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Polyphagia, Hepatomegaly, Agitation	ORPHA:276580
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:369840
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Familial Chylomicronemia Syndrome	Failure to thrive, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Decreased body weight, ...	ORPHA:444490
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells, S...	ORPHA:75233
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hepatitis	ORPHA:199296
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, Scoliosis, Kyphosis	OMIM:611225
Distal Nebulin Myopathy	Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Foot ...	ORPHA:399103
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Loss of subcutaneous ad...	ORPHA:2348
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ...	OMIM:600175
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hepato...	OMIM:232400
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:615595
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Lipodystrophy, Hypercholest...	ORPHA:528
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Decreased liver function, Abnormal circulating enzyme concentration or activit...	ORPHA:70472
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cir...	OMIM:308230
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Leukocytosis, Splenomegaly, S...	ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Conjunctivitis, Lymph...	OMIM:617591
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Obesity, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:606685
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Griscelli Syndrome	Hepatitis, Ascites, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Abnormali...	ORPHA:381
Congenital Enterovirus Infection	Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop...	ORPHA:292
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula...	OMIM:151660
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Failure to thrive, Decreased liver function	OMIM:238970
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Skeletal muscle hypertrop...	OMIM:300280
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hepatic steatosis, Spl...	OMIM:608594
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni...	OMIM:606842
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Elevated circulating cr...	OMIM:616471
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Biliary tract abnormality, Infectious encep...	OMIM:209920
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Pparg-Related Familial Partial Lipodystrophy	Loss of facial adipose tissue, Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Loss of ...	ORPHA:79083
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Myopathy, Myofibrillar, 6	Generalized amyotrophy, Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weaknes...	OMIM:612954
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot...	OMIM:619402
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C...	OMIM:615486
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism...	ORPHA:228426
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Anorexi...	ORPHA:781
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Amelogenesis im...	OMIM:614727
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H...	ORPHA:186
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat...	OMIM:300376
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss, Dysphagia	ORPHA:2198
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Polydipsia...	ORPHA:525731
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metabolism	OMIM:611721
Macrocephaly-Intellectual Disability-Autism Syndrome	Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis	ORPHA:210548
Carnitine Deficiency, Systemic Primary	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased carni...	OMIM:212140
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to ...	OMIM:617093
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hepatic steatosis, Spl...	OMIM:269700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Failure to thrive, Chronic mucocutaneous candidiasis, Pancytopenia, Decre...	ORPHA:572
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	ORPHA:171439
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi...	ORPHA:98907
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Melioidosis	Cellulitis, Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis...	ORPHA:31202
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,...	OMIM:302045
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv...	OMIM:269200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98855
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
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Legionnaires Disease	Cellulitis, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancreatitis, Anorexia...	ORPHA:549
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Obesity, Polyphagia	ORPHA:329249
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Sideroblastic anemia,...	OMIM:613561
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phosphorylase kin...	OMIM:261750
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:261
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit...	ORPHA:98853
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C...	ORPHA:858
Gaucher Disease Type 2	Hepatomegaly, Flexion contracture, Dysphagia, Splenomegaly	ORPHA:77260
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol...	OMIM:616276
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Parastremmatic Dwarfism	Flexion contracture, Scoliosis, Kyphosis, Short neck	OMIM:168400
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Normochromic microcytic anemia, Elevated circulating aspartate aminotransferas...	OMIM:610198
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Polyphagia, Enterocolitis, Weight loss, Steatorrhea	ORPHA:95427
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert...	OMIM:620236
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp...	ORPHA:98863
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto...	OMIM:614470
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl...	OMIM:617336
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Reduced...	OMIM:201450
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, H...	ORPHA:79333
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Neutr...	OMIM:618752
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Hepatomegaly	ORPHA:100024
Barth Syndrome	Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Heart Defects-Limb Shortening Syndrome	Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve...	ORPHA:1354
Dysbetalipoproteinemia	Obesity, Xanthelasma, Gout, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Hepato...	ORPHA:412
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr...	OMIM:256810
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he...	OMIM:613070
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira...	ORPHA:91138
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Portal hypertension, Spleno...	OMIM:613385
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Maculopapular exanthema, Acute p...	ORPHA:319218
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, EMG: myopathic abnor...	OMIM:619040
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Hurler-Scheie Syndrome	Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Gen...	ORPHA:93476
Immunodeficiency 32B	Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, An...	OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Thrombocytopenia, Hypert...	OMIM:613101
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis	OMIM:615996
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkaline phosphatase concent...	ORPHA:275761
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf...	ORPHA:98896
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Bronchiectasis,...	OMIM:613490
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Acquired Generalized Lipodystrophy	Generalized lipodystrophy, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, Pann...	ORPHA:79086
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird...	OMIM:615352
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration	OMIM:143500
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Hyperlordosis,...	OMIM:617404
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive	OMIM:613861
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Anemia...	ORPHA:298
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity, Recurrent pneumonia	OMIM:614962
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Increased circulating ferritin ...	OMIM:602390
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd...	OMIM:231530
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, Splenomegaly, ...	OMIM:620565
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ...	OMIM:614300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Pulmonary embolism, Congestive heart failure, Abnormal heart valve morphology, Hyp...	ORPHA:1345
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Neutropeni...	ORPHA:1163
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Mast Cell Sarcoma	Hepatomegaly, Mastocytosis, Weight loss, Splenomegaly	ORPHA:66661
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ...	OMIM:300400
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hepatomegaly, Jaundice, He...	ORPHA:108
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Obesity, Aggressive behavior, Self-mutilation	OMIM:616521
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Redu...	ORPHA:228305
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto thyroiditis, Decrea...	ORPHA:199299
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Galactosemia I	Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc...	OMIM:230400
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Kyphosis, Myopathy	OMIM:618237
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia...	ORPHA:824
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Knee flexion contracture, Hi...	OMIM:615290
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc...	OMIM:619487
Atrial Standstill 1	Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra...	OMIM:108770
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly	ORPHA:42642
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:79322
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Arrhythmia, Kyphosis	OMIM:618453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Elevat...	OMIM:607155
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Failure to thrive	ORPHA:28
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia	ORPHA:50251
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Dysphagia	ORPHA:1332
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Anorexia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, H...	ORPHA:79312
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Increased muscle lipid content, Failure to thrive, Increased muscle glycogen content	OMIM:500009
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia, Failure to thrive, Decreased body weight	OMIM:620085
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatin...	OMIM:609452
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hypertrigly...	OMIM:620603
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Galactokinase Deficiency	Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hyp...	ORPHA:79237
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin...	ORPHA:280365
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Foot dorsiflexor weakness, Scoliosis, Lower limb amyotrophy, Upper limb amyotrophy	OMIM:617087
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Failure to thrive	OMIM:618958
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia	OMIM:300752
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Ragged-red muscle fibers, Elevat...	OMIM:615084
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:66628
Lichen Planopilaris	Hepatitis	ORPHA:525
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ...	OMIM:616827
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo...	OMIM:618495
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Zimmermann-Laband Syndrome 3	Facial hypertrichosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Low anterior hairline, Pate...	OMIM:618658
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity	OMIM:618406
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
14Q11.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior	ORPHA:261229
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK...	OMIM:310200
Hemochromatosis, Type 3	Cardiomyopathy, Increased circulating ferritin concentration, Lymphopenia, Hyperpigmentation of t...	OMIM:604250
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive	ORPHA:977
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Transient hyperlipidemia, Hepatic failure, Elevated circulating hepatic transaminas...	ORPHA:156
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Necrotizing entero...	OMIM:619573
Bacterial Toxic-Shock Syndrome	Cellulitis, Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Abscess, Skin rash, Infectious enceph...	ORPHA:36234
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Obesity Due To Leptin Receptor Gene Deficiency	Polyphagia, Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:179494
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ...	OMIM:147480
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Cardiomyopathy, Increased circul...	OMIM:613752
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Immunodeficiency, Common Variable, 1	Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu...	OMIM:607594
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Obesity Due To Sim1 Deficiency	Attention deficit hyperactivity disorder, Polyphagia, Obesity	ORPHA:369873
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope...	ORPHA:59303
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive	ORPHA:163690
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Agammaglob...	OMIM:619705
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Dysphagia, Pure red cell aplasi...	ORPHA:589
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn...	ORPHA:75840
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Abnormal left ventricular function, Cardiomyopathy, Elevated circulating crea...	OMIM:613155
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:247598
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic anemia, Leukocyto...	OMIM:243150
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Obesity, Inappropriate laughter, Hyperactivity	ORPHA:411515
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Motor stereotypy	OMIM:615637
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Pigmentary retinopathy, Skeletal muscle atrophy, Cardiomyop...	ORPHA:329336
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	ORPHA:367
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly, Necr...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte...	OMIM:610199
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,...	ORPHA:397596
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,...	ORPHA:79259
19P13.12 Microdeletion Syndrome	Self-injurious behavior, Obesity, Hyperlipidemia, Hepatic steatosis, Hyperactivity, Arthrogryposi...	ORPHA:254346
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati...	OMIM:619064
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopat...	ORPHA:352447
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology, Scoliosis, Kyphosis	ORPHA:79327
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulating enzyme concen...	ORPHA:79319
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Graves Disease	Polyphagia, Weight loss, Abnormal abdomen morphology, Hyperactivity	OMIM:275000
Schaaf-Yang Syndrome	Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu...	OMIM:615547
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563

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