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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
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He...	ORPHA:541423
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Microcytic anemia	OMIM:618852
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Steatorrhea, Failure to thrive, Hypocholes...	OMIM:266510
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Hepatomegaly, Abnormality of the liver, Increased muscle lipid...	ORPHA:254864
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum...	ORPHA:83471
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Cardiomyopathy,...	OMIM:616549
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Acanthocytos...	OMIM:615558
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal subcutaneous fat tissue distr...	OMIM:212065
Alpha-Heavy Chain Disease	Splenomegaly, Ascites, Anemia, Hepatomegaly	ORPHA:100025
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Ab...	ORPHA:158048
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thr...	OMIM:615947
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Splen...	OMIM:603553
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Mucopolysaccharidosis Type 7	Inguinal hernia, Splenomegaly, Hepatitis, Umbilical hernia, Ascites	ORPHA:584
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly	ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepatic failure	OMIM:602579
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi...	ORPHA:352447
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement...	ORPHA:329478
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Anorexia, Splenomegaly, Weight loss	ORPHA:391
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Pericar...	OMIM:239850
Leptin Receptor Deficiency	Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior	OMIM:614963
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Kypho...	OMIM:618484
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Pigmentary retinopathy, Le...	OMIM:252011
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Increased circulating ferritin co...	OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, El...	OMIM:606612
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Highly arched eyebrow, Kyphosis, Abnormal heart morphology, Congenital contractu...	ORPHA:352490
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces...	ORPHA:400
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Temple Syndrome	Polyphagia, Small for gestational age, Obesity	ORPHA:254516
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Shor...	OMIM:230500
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly, Chronic hepatitis, Erythrod...	ORPHA:3260
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227982
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w...	ORPHA:254886
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Asymmetric se...	OMIM:252920
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Cellulitis, Recurrent pneumoni...	ORPHA:47612
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Anemia, Infecti...	ORPHA:319251
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:212138
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat...	OMIM:614034
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy...	OMIM:601214
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Chilblains, Pneumonia, Skin ras...	OMIM:615846
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Spl...	OMIM:256550
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia	ORPHA:158029
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replacement of skeletal ...	ORPHA:52430
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho...	OMIM:617156
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level,...	OMIM:300861
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Hirsutism	ORPHA:85288
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Decreased circulating antibody level, Scoliosis, Hypertrichosis	ORPHA:85317
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis,...	OMIM:267700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hyperlipidemia, Hepatic calcification, Tubulointerstitial nephritis, ...	ORPHA:228308
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Steatorrhea, Fa...	OMIM:616263
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow	OMIM:609384
Noonan Syndrome 8	Curly hair, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral regurgitation...	OMIM:615355
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatic failure	ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Ragged...	OMIM:258450
Microcephaly, Amish Type	Hepatomegaly, Failure to thrive, Flexion contracture	OMIM:607196
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:2584
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p...	ORPHA:57777
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Chronic oral candidiasis, Recur...	ORPHA:276
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, S...	OMIM:252605
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber...	ORPHA:401768
Immunodeficiency 54	Splenomegaly, Failure to thrive, Reduced natural killer cell count, Hepatomegaly	OMIM:609981
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Failure to thrive, Hepatic steatosis, Pancreatitis	OMIM:236200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hirsutism, Scoliosis	OMIM:300434
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive, Anemia	ORPHA:436271
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Distichiasis, Anemia	ORPHA:2598
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Anorexia, Leukocytosis, Jaundice...	ORPHA:20
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Mccune-Albright Syndrome	Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Increased circulating cortisol leve...	ORPHA:562
Insulinoma	Abnormality of the pancreatic islet cells, Polyphagia, Increased body weight	ORPHA:97279
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Infection associated neutropenia, Neutropenia	ORPHA:445038
Bardet-Biedl Syndrome 9	Truncal obesity, Polydipsia, Polyphagia, Obesity	OMIM:615986
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest...	OMIM:260400
Roifman Syndrome	Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hip contracture, Eosinophilia, Prominent...	ORPHA:353298
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusi...	OMIM:240500
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased adipose tissue, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib...	ORPHA:1349
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis	ORPHA:1334
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ...	OMIM:300755
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep...	ORPHA:1855
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Steat...	ORPHA:14
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp...	ORPHA:456312
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Skin rash, Recurrent skin infect...	OMIM:619381
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:601859
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate...	OMIM:618329
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:205400
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope...	OMIM:301078
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ...	ORPHA:699
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis...	ORPHA:39041
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegal...	ORPHA:1517
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
B4Galt1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Inflammator...	ORPHA:79332
Winchester Syndrome	Kyphosis, Hirsutism	OMIM:277950
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hypos...	OMIM:169400
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hypertrophi...	OMIM:620326
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Mucopolysaccharidosis-Plus Syndrome	Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoa...	OMIM:617303
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Flexion contracture, Mitral regurgitation, Scoliosis, Camptodactyly, Restrictive cardio...	ORPHA:88630
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Generaliz...	OMIM:619183
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites	OMIM:215600
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce...	ORPHA:348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Hernia, Atrial s...	ORPHA:505248
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Enlarged kidney, Autoimmune thrombocytopenia	OMIM:613496
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Roifman Syndrome	Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hepatomegaly, Ventricular septal defect,...	OMIM:616651
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short neck, Scoliosis, Pulmonic stenosis, Atrial septal de...	OMIM:615279
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, El...	ORPHA:263455
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Pigmentary retinopathy	OMIM:520000
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Diaphragmatic eventration, Spinal muscular atrophy, Secundum atrial septal defect, Congestive hea...	OMIM:616866
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In...	OMIM:613839
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	OMIM:607625
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Inflammatio...	OMIM:614576
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop...	ORPHA:119
Cornelia De Lange Syndrome 2	Thick eyebrow, Highly arched eyebrow, Short neck, Synophrys, Low anterior hairline, Long eyelashe...	OMIM:300590
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Jaundi...	ORPHA:1667
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive	OMIM:210200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Aromatase Deficiency	Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Obesity, Hepatic steatosis	ORPHA:91
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper...	OMIM:615382
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin	ORPHA:2786
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Agg...	ORPHA:84081
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, K...	ORPHA:392
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Flexion contracture, Camptodactyly, Failure to thrive	OMIM:604273
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Increased circu...	OMIM:619313
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	OMIM:606407
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow	ORPHA:2429
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice	OMIM:231680
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cholestasis, Anemia, Decreased liver function, Camptodactyly, As...	OMIM:608104
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Um...	OMIM:251290
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Short neck, Patent ductus arteriosus, Hernia, Atrial septal defect, Hypertrophic ca...	ORPHA:1842
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hyp...	ORPHA:436252
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Abnormality of skin pigmentation, Cardiomyopathy, Atri...	ORPHA:53296
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Arthrogryposis multipl...	OMIM:611890
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Dysphagia, A...	ORPHA:779
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Anemia, Neutropenia, Propionyl-CoA carboxylase deficiency, Fa...	OMIM:606054
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocyto...	OMIM:616271
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Congestive heart failure, ...	ORPHA:324410
Acute Disseminated Encephalomyelitis	Viral hepatitis, Aggressive behavior, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ...	ORPHA:66634
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Kyphosis, Low posterior hairline, Premature graying of hair,...	ORPHA:2617
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Anorexia, Weight loss, Increased circulating cortisol level, Hepatic fai...	ORPHA:97287
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,...	ORPHA:575
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas...	ORPHA:178148
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Pericardial effusion, Kyphosis, Abnormal myocardium morphology, Splen...	ORPHA:77259
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Chronic lymphatic leukem...	ORPHA:91139
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Congestive he...	ORPHA:354
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pigmentary retinopathy...	OMIM:253250
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Splenomegaly, Kyphosis, Flexion contractu...	ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Failure ...	OMIM:619423
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Myositis...	ORPHA:3243
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Scoliosis	ORPHA:544469
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, B ...	OMIM:602450
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Scoliosis	OMIM:618241
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles...	ORPHA:1333
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Abnormal abdomen morp...	ORPHA:97283
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co...	ORPHA:2331
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Failure to thrive	ORPHA:50812
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph...	ORPHA:171436
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ...	ORPHA:73263
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Cardiomegaly, Low anterior hairline, Hernia, Atrial septal defect, Pericar...	ORPHA:363705
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Noonan Syndrome 6	Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Short neck, Low posterior hairline, ...	OMIM:613224
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Scoliosis, Subvalv...	ORPHA:3191
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Abnormal heart valve m...	OMIM:253220
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Abnormal abdomen morp...	ORPHA:97278
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Hy...	OMIM:618886
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Inguinal hernia, Splenomegaly, Umbilical hernia	OMIM:252900
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Leopard Syndrome 2	Curly hair, Short neck, Multiple lentigines, Hypertrophic cardiomyopathy, Cafe-au-lait spot	OMIM:611554
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly	ORPHA:1133
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog...	ORPHA:85212
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges...	OMIM:615895
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Optic neuritis, El...	ORPHA:509
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly	OMIM:313420
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Luscan-Lumish Syndrome	Recurrent otitis media, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Facial myokymia	OMIM:620007
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, L...	ORPHA:79456
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Scoliosis	ORPHA:505652
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Abnormal dental enamel morphology, Obesity, Episodic he...	ORPHA:251004
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Inguinal hernia, Failure to thrive, Small for gestat...	OMIM:613658
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi...	OMIM:212112
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Dyspha...	OMIM:230600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Failure to thrive, Pancreati...	OMIM:251000
Aapoaiv Amyloidosis	Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co...	ORPHA:439232
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic steatosi...	ORPHA:746
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Alopecia, Left ventricular hypertrophy, Fair hair, Cardiomegaly...	ORPHA:79330
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ele...	ORPHA:370959
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Low posterior hairline, Pulmonic sten...	ORPHA:2701
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Noonan Syndrome 2	Curly hair, Mitral stenosis, Ventricular septal defect, Short neck, Sparse eyebrow, Patent ductus...	OMIM:605275
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Attention deficit hyperactivity ...	ORPHA:3166
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase con...	ORPHA:26791
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr...	ORPHA:85443
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to thrive in infancy, Pust...	OMIM:612852
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Hirsu...	OMIM:616455
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100080
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:17
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Inguinal hernia	OMIM:618392
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, Neutropenia, Hyperechogenic panc...	OMIM:617941
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Increased circulating IgE level, Scoliosis	ORPHA:1858
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Scapular winging, Spinal rigidity, ...	OMIM:620351
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Cirrh...	ORPHA:355
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea...	OMIM:229600
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Low...	OMIM:619909
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy	ORPHA:1875
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Umbilical h...	ORPHA:137834
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C...	OMIM:617713
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Highly arched eyebrow, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis mul...	OMIM:615834
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyelashes, Scoliosis, Abnormality o...	ORPHA:48431
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Angelman Syndrome	Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr...	ORPHA:72
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ...	OMIM:142680
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Weight l...	ORPHA:67
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Patent ductus arteriosus, Frontal upsweep of hair, Scoliosis	OMIM:619797
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Anorexia, Acanthocytosis, Intrahepatic cholest...	ORPHA:97280
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Hernia, Dysphagia	OMIM:252930
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Parotitis, Glomerulonephritis, Lymphocytic...	ORPHA:289390
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly, Atrial s...	ORPHA:2655
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy, Scoliosis	OMIM:617183
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short neck, Hypoplasia of the odontoid proce...	OMIM:607014
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:614887
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlord...	OMIM:253000
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Noonan Syndrome 5	Curly hair, Short neck, Sparse eyebrow, Fine hair, Multiple lentigines, Arrhythmia, Pulmonic sten...	OMIM:611553
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Kyphosis, ...	ORPHA:79329
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger	ORPHA:1759
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic ste...	ORPHA:3098
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Noonan Syndrome 10	Curly hair, Mitral stenosis, Ventricular septal defect, Short neck, Sparse eyebrow, Patent ductus...	OMIM:616564
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai...	OMIM:251110
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Scoliosis, Arrhythmia, Hypertrophic...	ORPHA:96
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Abnormal circulating creatine k...	ORPHA:521411
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Xanthelasma, Hepatocellular ca...	OMIM:232200
Fish-Eye Disease	Splenomegaly, Hepatomegaly	ORPHA:79292
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Short ne...	ORPHA:93473
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Abnormal abdomen morp...	ORPHA:97282
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, N...	ORPHA:404454
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Obesity, Abnormal temper tantrums, Skin-picking...	ORPHA:163681
Alg3-Cdg	Lipodystrophy, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Hypopigmentation...	ORPHA:79321
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease, Failure to thrive	ORPHA:5
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Hepatomegaly	ORPHA:56425
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa...	ORPHA:811
Alpha-Mannosidosis	Hepatomegaly, Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Macroglossia, Scoliosis	ORPHA:61
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrop...	OMIM:607015
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Increased c...	ORPHA:470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Eczema, Portal hypertension...	OMIM:615688
Monosomy 13Q34	Hepatic steatosis, Obesity	ORPHA:96168
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Small for gestatio...	OMIM:277380
Brucellosis	Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious en...	ORPHA:1304
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Polyphagia, Obesity, Self-inj...	ORPHA:293987
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen...	OMIM:275350
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Vici Syndrome	Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Cardiomyopathy, Decreased ...	ORPHA:1493
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis	OMIM:615356
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Macrocytic anemia	OMIM:619046
Shashi-Pena Syndrome	Highly arched eyebrow, Kyphosis, Patent ductus arteriosus, Synophrys, Limb hypertonia, Long eyela...	OMIM:617190
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
3C Syndrome	Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosi...	ORPHA:7
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Thanatophoric Dysplasia Type 2	Atrial septal defect, Kyphosis, Patent ductus arteriosus, Platyspondyly	ORPHA:93274
Vici Syndrome	Lymphopenia, Hypopigmentation of hair, Left ventricular hypertrophy, Elevated circulating creatin...	OMIM:242840
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi...	ORPHA:198
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Cachexia, Anorexia, Splenomegaly, Myocarditis, Uveitis, Art...	ORPHA:3452
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Portal fibrosis	OMIM:207800
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Scapular winging, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, S...	OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Vaginal hernia	ORPHA:3173
Hypomelanosis Of Ito	Kyphosis, Alopecia, Macular hypopigmented whorls, streaks, and patches, Scoliosis	OMIM:300337
Emanuel Syndrome	Sacral dimple, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphra...	OMIM:609029
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, T lymphocytopenia, Decreased circulating IgG level, Abnormality o...	ORPHA:508533
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis ...	ORPHA:379
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Compulsive behaviors,...	ORPHA:398069
Noonan Syndrome 4	Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, High anterior hairline, Blue i...	OMIM:610733
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Abnormal abdomen morp...	ORPHA:97261
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Recurrent otitis media, Lymphopenia	OMIM:605309
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheek...	ORPHA:576
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat...	OMIM:616026
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Leukemia, Malar rash, Hepatic...	OMIM:210900
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss	ORPHA:100082
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Kyphosis, Mitral valve prolapse, Scoliosis, Pulmoni...	OMIM:609008
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash	OMIM:601979
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:248800
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ...	ORPHA:2635
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormalit...	ORPHA:175
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Hypovolemic sh...	ORPHA:158687
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,...	ORPHA:98793
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc...	OMIM:130060
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Beta-Ketothiolase Deficiency	Hepatomegaly, Anorexia, Leukocytosis, Weight loss, Agitation, Oral aversion, Thrombocytosis	ORPHA:134
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Hyp...	ORPHA:77293
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co...	OMIM:603387
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,...	ORPHA:177904
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Obsessive-compulsive trait,...	ORPHA:177901
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis, Anemia	OMIM:243910
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated gamma-g...	OMIM:613095
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Amelogenesis imperfecta, Chronic otitis ...	ORPHA:169090
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short neck, Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Dysplastic sacrum, Sever...	OMIM:613320
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Compulsive...	ORPHA:488618
Noonan Syndrome 14	Aortic regurgitation, Curly hair, Scapular winging, Short neck, Sparse eyebrow, Kyphosis, Mitral ...	OMIM:619745
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:324525
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Short neck, Flexion contracture, Platyspondyly, Hypertro...	OMIM:616897
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Increased circulating interleukin 6 concentration, Heart block, Capillary leak, Incr...	ORPHA:542323
Mirizzi Syndrome	Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Elevated circulating alkaline ph...	ORPHA:521219
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ...	ORPHA:258
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia	OMIM:234250
Mcdonough Syndrome	Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Kleefstra Syndrome 2	Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly	ORPHA:772
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia...	ORPHA:2311
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Enterocolitis, Ane...	ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia	OMIM:617710
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Kyphosis, Patent ductus arteriosus, Scoli...	ORPHA:3378
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Lumbar hyperlordosis, Ovoid vertebral bod...	OMIM:253200
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Thrombocytopenia	ORPHA:99828
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Hypertrichotic hyperpigmented patch, Atrial se...	OMIM:602782
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful...	ORPHA:319213
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Kyphosis, Abnormal heart morphology, Hernia, Scoliosis, High ant...	ORPHA:94065
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S...	ORPHA:98754
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Upper limb hypertonia	ORPHA:319199
Sim1-Related Prader-Willi-Like Syndrome	Obesity, Abdominal obesity, Abnormal temper tantrums, Skin-picking, Failure to thrive, Polyphagia	ORPHA:398079
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Ascites, Decreas...	OMIM:608013
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Hypopigmentation of...	OMIM:252500
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macr...	ORPHA:583
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm...	OMIM:108145
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Ky...	ORPHA:582
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia	ORPHA:3386
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occul...	ORPHA:64755
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Splenomegaly, ...	ORPHA:1454
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis	OMIM:612387
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis	ORPHA:1545
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal mitral valve mor...	ORPHA:500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Kearns-Sayre Syndrome	Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Pigmentary retinopathy, Third deg...	OMIM:530000
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Hepatic calcification, Tubulointerstitial nephritis, Reduced carnit...	ORPHA:157
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Cardio...	OMIM:617022
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Abnormality of retinal pigmentation, Abnormal heart valve morpholo...	OMIM:309900
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Decreased muscle mass, Bicuspid aortic valve, Ventricular sept...	OMIM:130720
Noonan Syndrome 7	Curly hair, Short neck, Low posterior hairline, Scoliosis, Pulmonic stenosis, Atrial septal defec...	OMIM:613706
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Abnorma...	ORPHA:79128
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess...	OMIM:612541
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Inguinal hernia, Kyphosis, Umbilical hernia, Enlarged kidney	OMIM:618272
Baralle-Macken Syndrome	Kyphosis, Cafe-au-lait spot, Hirsutism	OMIM:619255
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect	ORPHA:261190
Tyrosinemia, Type I	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomega...	OMIM:276700
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Failure to thrive, Recurrent aspiration pneumonia,...	OMIM:230900
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Kyphosis, Umbilical hernia, Scoliosis	ORPHA:2181
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Foot dorsiflexor weakness, Scoliosis	OMIM:618124
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis	OMIM:614409
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Low anterio...	OMIM:618223
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthel...	OMIM:232240
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Short neck, Patent ductus arteriosus, Umbilical hernia, Hypertrophic c...	OMIM:612938
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Scoliosis, Weakness of facial musculature	OMIM:201470
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai...	OMIM:251100
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Iron deficiency anemia, Hepat...	ORPHA:100075
Costello Syndrome	Generalized hyperpigmentation, Ventricular septal defect, Abnormal dental enamel morphology, Shor...	ORPHA:3071
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Polydipsia, Failure to thrive, Anemia	OMIM:239200
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ...	OMIM:256040
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Failure to thrive, Low alkaline phosphatase, Hepatomegaly	OMIM:201100
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Abnor...	ORPHA:251071
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur...	OMIM:618291
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Kyphosis, Abnormality of retinal pigmentation, Hyperlordosis	ORPHA:3085
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Pigmentary retinopathy, Thrombocytopenia	OMIM:222300
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Dilated cardio...	ORPHA:261250
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Trichothiodystrophy	Sparse scalp hair, Brittle hair, Ventricular septal defect, Multiple joint contractures, Absence ...	ORPHA:33364
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Rest...	OMIM:619475
Sialidosis Type 1	Skeletal muscle atrophy, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Hernia, S...	ORPHA:812
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Increased circulating IgE level, Flexion contractu...	ORPHA:3409
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Diaphanospondylodysostosis	Inguinal hernia, Abnormal liver lobulation, Enlarged kidney	OMIM:608022
Distal Triplication 15Q	Kyphosis, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Scoliosis, He...	ORPHA:314588
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Flexion contracture, Scoliosis, Facial hirsutism, Atrial septal defect, Hypertrophi...	OMIM:619383
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Abnormal repetitive mannerisms, Polyphagia, O...	ORPHA:1606
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy, Scoliosis	ORPHA:496790
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ...	OMIM:253010
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Refsum Disease	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Heart block, Splenomegaly, Cardiomy...	ORPHA:773
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertension, Scarr...	ORPHA:797
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Seborrheic dermatitis, Large for gestational age, Microvesicular h...	OMIM:300868
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger...	ORPHA:1883
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Mucopolysaccharidosis Type 1	Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Low ant...	ORPHA:579
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of cla...	OMIM:233600
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Kyphosis, Low anterior hairline, Abnormal heart...	ORPHA:404440
Wieacker-Wolff Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph...	OMIM:314580
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Marden-Walker Syndrome	Inguinal hernia, Decreased muscle mass, Dextrocardia, Short neck, Kyphosis, Congenital contractur...	OMIM:248700
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short neck, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Hernia	OMIM:217980
Srd5A3-Cdg	Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Spotty hyperpi...	ORPHA:324737
Prader-Willi Syndrome	Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi...	OMIM:176270
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Adnp Syndrome	Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Compulsive beha...	ORPHA:404448
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder	OMIM:619934
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang...	ORPHA:93672
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platyspondyly, Atrial s...	ORPHA:1860
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc...	ORPHA:365
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Iris hypopigme...	OMIM:610443
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated creatine kinase after exercise, Rhabdomyolysis, Ventricular tachycardia, C...	ORPHA:159
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormality of hair texture, Cardiomyopathy, ...	ORPHA:88618
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Facial diplegia, Scoliosis, Hypertrophic ca...	OMIM:619121
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism	ORPHA:238750
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Anorexia, Pustule, Splenomegaly, Myocardi...	ORPHA:50918
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Eczema, Aggressive behavior, Splenomegaly, Cholestatic liver disease...	OMIM:270400
Prader-Willi Syndrome	Polyphagia, Abdominal obesity, Periodontitis, Attention deficit hyperactivity disorder, Failure t...	ORPHA:739
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Sy...	ORPHA:2463
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct...	OMIM:253260
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Abnormality of the musculature of the lower limbs, Scoliosis	ORPHA:464282
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Bicuspid aortic valve, Subarach...	ORPHA:91387
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Inguinal hernia, Cardiac arrest, Congestive heart failu...	OMIM:212720
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Stickler Syndrome, Type I	Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr...	OMIM:108300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Hepatic steatosis, Abdominal obesity	OMIM:619321
Alström Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hepatic steatosis, Hepa...	ORPHA:64
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis	OMIM:259440
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi...	ORPHA:247691
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi...	OMIM:609128
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Hyper...	OMIM:607426
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Neutropenia, Type 2 muscle fiber predominance, Scoliosis, Arrhythmia, Hy...	OMIM:615471
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Gastritis, Small for gestational age, Increased mean platelet volu...	ORPHA:84064
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp...	ORPHA:93314
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of...	ORPHA:2789
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Bicuspid aortic valve, Abnormal dental enamel morphol...	ORPHA:96169
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas...	OMIM:207900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr...	OMIM:608885
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan...	OMIM:616914
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Highly arched eyebrow, Supernumerary nipple, Secundum atrial septal defe...	OMIM:619951
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Anemia	OMIM:618835
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Flynn-Aird Syndrome	Kyphosis, Alopecia, Scoliosis, Skeletal muscle atrophy	ORPHA:2047
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila...	ORPHA:363623
Diastrophic Dysplasia	Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ...	ORPHA:628
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Cohen Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Thick hair, Abnormal eyelash morp...	ORPHA:193
Cockayne Syndrome Type 2	Hepatomegaly, Scarring, Hypermelanotic macule, Kyphosis, Flexion contracture, Scoliosis, Enamel h...	ORPHA:90322
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal obesity, Atte...	OMIM:615873
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, Platyspondyly, Macroglossia, Be...	ORPHA:79255
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol...	ORPHA:2916
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac...	OMIM:301041
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged ...	OMIM:200995
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Cirrhosis	OMIM:215700
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair, Hernia of the...	ORPHA:3082
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Splenomegaly, Vasculitis, Cardiomyopathy, Thrombocytopenia	OMIM:225750
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Pulmonic stenosis, Camptodactyly, Atrioventricular...	OMIM:619123
Cardiofaciocutaneous Syndrome	Brittle hair, Abnormal heart valve morphology, Slow-growing hair, Generalized hyperpigmentation, ...	ORPHA:1340
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel m...	ORPHA:79430
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Kyphosis, Sparse hair, Scoliosis, Atrial septal defec...	OMIM:616449
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Abnormal cardiac septum morphology, Scoliosis	ORPHA:2075
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Raynaud phenomenon, Neonatal al...	ORPHA:51
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ...	OMIM:177850
Castleman Disease	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:160
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal ...	OMIM:616894
Ruvalcaba Syndrome	Kyphosis, Inguinal hernia, Scoliosis	OMIM:180870
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital diaphragmatic hernia, Short neck, Vertebral segmentation defect, ...	ORPHA:373
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Yellow nails, Kyphosis, Patent ductus arteriosus, Distichiasis, Cellul...	OMIM:153400
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Bronchiectasis, Abnormality of the liver, Cirrhosis, St...	ORPHA:586
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Primary hypercortisolism, Anorexia	ORPHA:100079
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Thyroiditis, Gast...	ORPHA:881
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Kyphosis, Melanocytic nevus, Multip...	ORPHA:1969
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus, Scoliosis	OMIM:615398
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck...	OMIM:245600
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr...	OMIM:222700
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Synophrys, Thoracic kyphosis, Atrial septal defect, Sparse hair...	OMIM:602535
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Generalized lipodystrophy, Decreased body weight, Failure to t...	ORPHA:79474
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Thick hair, Low...	ORPHA:769
Ruvalcaba Syndrome	Inguinal hernia, Kyphosis, Hypopigmented skin patches, Scoliosis, Abnormal vertebral epiphysis mo...	ORPHA:3121
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Patent ductus arter...	OMIM:135500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivert...	OMIM:301040
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta	ORPHA:2983
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Skeletal muscle atrophy, Kyphosis, Abnormal form of the vert...	ORPHA:192
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, ...	OMIM:188400
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Scoliosis	OMIM:229300
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk...	OMIM:263700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hepatomegaly, Hypertrophic cardiomyopathy, Brittle hair	OMIM:618810
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Weismann-Netter Syndrome	Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Bruck Syndrome	Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis	ORPHA:2771
Mucopolysaccharidosis Type 3	Hepatomegaly, Inguinal hernia, Thick hair, Cardiomegaly, Splenomegaly, Synophrys, Flexion contrac...	ORPHA:581
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation, Camptodactyly of finger	ORPHA:99776
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Kyphosis, Macroglossia	OMIM:300354
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Co...	OMIM:615512
Trisomy 20P	Inguinal hernia, Thick hair, Highly arched eyebrow, Short neck, Camptodactyly of finger, Kyphosis...	ORPHA:261318
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, ...	OMIM:618143
Arterial Tortuosity Syndrome	Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni...	ORPHA:3342
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s...	ORPHA:1724
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow	OMIM:618443
Gangliocytoma	Polyphagia	ORPHA:251937
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Irregular vertebral endplates, Tricuspid regurgitation, Lumbar h...	OMIM:143095
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Thrombocytopenia, Supravalvar pulmonary stenos...	OMIM:620185
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Chronic otitis media, Hepatic steat...	OMIM:619503
Ogden Syndrome	Inguinal hernia, Eczema, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Abnormal repet...	OMIM:300855
Pseudohypoparathyroidism Type 1C	Polyphagia, Enamel hypoplasia, Conjunctivitis, Obesity	ORPHA:79444
Choreoacanthocytosis	Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Scoliosis	ORPHA:95
Agel Amyloidosis	Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Arrhythmia...	ORPHA:85448
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Inguinal hernia, Abnormal heart valve morphology, Abnormal p...	ORPHA:217085
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Rhabdom...	OMIM:616878
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Abnor...	ORPHA:1328
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Short neck, Absent eyelashes, Splenomegaly, Low po...	OMIM:115150
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Congenital diaphragmatic hernia, Kyphos...	OMIM:617602
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Inguinal hernia, Abnormal heart valve morphology, Abnormal p...	ORPHA:217093
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Osteogenesis Imperfecta, Type Iii	Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ...	OMIM:259420
Hajdu-Cheney Syndrome	Hepatomegaly, Inguinal hernia, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplasti...	ORPHA:955
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology,...	ORPHA:580
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Cardi...	OMIM:620306
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating creatine kinase concent...	OMIM:164310
Toriello-Carey Syndrome	Short neck, Sparse eyebrow, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum mor...	ORPHA:3338
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Abnormal heart morphology, Decreased circulating total IgM, Scoliosis, ...	ORPHA:369837
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Inguinal hernia, Sparse scalp hair, Ventricular septal defect, ...	OMIM:607721
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Low ante...	ORPHA:800
Fountain Syndrome	Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic...	ORPHA:3219
3M Syndrome	Scapular winging, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebr...	ORPHA:2616
Von Hippel-Lindau Disease	Back pain, Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy...	ORPHA:892
X-Linked Acrogigantism	Increased body mass index, Polyphagia	ORPHA:300373
Pseudohypoparathyroidism Type 1A	Polyphagia, Enamel hypoplasia, Conjunctivitis, Obesity	ORPHA:79443
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Hyperpigmented streaks, Histiocy...	OMIM:300952
Rett Syndrome	Skeletal muscle atrophy, Kyphosis, Scoliosis, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Sacral dimple, Fair hair, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Sacral dimple, Fair hair, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:363958
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia	ORPHA:572798
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto...	ORPHA:3455
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Alopecia, Kyphoscoliosi...	ORPHA:536532
Cowden Syndrome 1	Kyphosis, Decreased circulating antibody level, Scoliosis, Lymphopenia, Subcutaneous lipoma	OMIM:158350
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophili...	ORPHA:99827
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal hair mo...	ORPHA:251014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Short neck, Patent ductus arteriosus, Hyperpigme...	OMIM:600268
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj...	OMIM:620330
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair	OMIM:617988
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Camptodactyly of finge...	ORPHA:2215
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Camptodacty...	ORPHA:88628
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Facial pals...	ORPHA:261349
Leopard Syndrome 1	Bundle branch block, Scapular winging, Kyphoscoliosis, Short neck, Complete atrioventricular cana...	OMIM:151100
Cockayne Syndrome Type 3	Hepatomegaly, Dry hair, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contracture, Sub...	ORPHA:90324
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Abnormality of muscle size, Facial hypotonia, Scoliosis	ORPHA:364028
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val...	OMIM:609942
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification...	OMIM:203500
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Sparse eyebrow, Kyphosis, Scoliosi...	ORPHA:464738
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr...	OMIM:249420
Craniopharyngioma	Polyphagia, Obesity	ORPHA:54595
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Dysphagia, Left ven...	OMIM:220111
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Hypertension, Biconcave vertebral bodies, Vertebral compressio...	OMIM:219090
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta...	ORPHA:506
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Abnormality of retinal pigmentation...	ORPHA:394
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Multiple joint contractures, Diaphragmatic eventration, Thoracolumbar scoliosis,...	OMIM:265000
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Abnormal cardiovascular s...	ORPHA:886
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Scoliosis	ORPHA:79107
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Congestive heart failure, Kyphosis, Platyspondyly, Pulmonary...	OMIM:616482
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Co...	OMIM:617403
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Complete atrioventricular canal defect, Scoliosis, Synophrys	ORPHA:476126
Pycnodysostosis	Hyperlordosis, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondyl...	ORPHA:763
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Autosomal Recessive Robinow Syndrome	Sacral dimple, Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Inguinal...	ORPHA:1507
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Kyphosis, Patent duct...	ORPHA:464311
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal dental enamel morphology, Kyphosis, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1005
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Highly arched...	OMIM:619005
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uveitis, Weigh...	OMIM:181000
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Failure to thrive, Hepatomegaly	OMIM:612132
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Short neck, Kyphosis, Synophrys,...	ORPHA:85293
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Kyphosis, Patent du...	ORPHA:464306
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Axillary freckling,...	ORPHA:363700
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Low anterior hairline	ORPHA:261222
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphosis, Absence of subcutaneous fat,...	ORPHA:2911
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal heart valve morphology, Highly arched eyebrow, Congenital diaphragmatic h...	ORPHA:280
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Patent ductus arteriosus, Hypopigmented skin patches,...	ORPHA:84
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis	OMIM:211530
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Um...	ORPHA:96191
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy	ORPHA:88644
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypertension, Arrhythmia, Umbilical hernia, Hypertrophic cardiomyopathy	OMIM:614052
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Kyphosis, Skeletal muscle atrophy	OMIM:219080
Alexander Disease	Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Hypertension, Hypotensio...	ORPHA:58
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy,...	OMIM:130650
Harrod Syndrome	Kyphosis, Hypopigmented skin patches, Scoliosis	ORPHA:2115
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Vertebral segmentation defect, Atrial septal defect, Hepatomegal...	OMIM:312870
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Thin eyebrow, Abnormal T-wave, ...	ORPHA:2131
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Back pain, Kyphosis, Enthesitis, Sacroiliac arthritis, Arrhythmia	OMIM:106300
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Ky...	OMIM:163950
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Micro Syndrome	Kyphosis, Abnormality of retinal pigmentation, Generalized hirsutism, Scoliosis	ORPHA:2510
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Neutropenia, Macroglossia, Mitral regurgitation, ...	OMIM:208400
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Splenomegaly, Kypho...	OMIM:216400
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Camptodactyly, Polyphagia, Self...	OMIM:607872
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis	OMIM:617821
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Elevated circulating alpha-fetoprote...	ORPHA:116
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Sacral dimple, Tricuspid regurgitation, Abnormal dental enam...	ORPHA:2556
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, Dentinogenesis imperfecta	OMIM:616294
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra...	OMIM:259770
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Synophrys, Bilateral wrist flexion contracture, Congenital contra...	ORPHA:97297
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Zttk Syndrome	Aortic regurgitation, Curly hair, Ventricular septal defect, Sparse eyebrow, Kyphosis, Patent duc...	OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc...	OMIM:300966
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes	OMIM:618476
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Ventricular septal defect, Abnormal dental enamel morphology, Congenita...	ORPHA:818
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Generalized hyperpigmentation, Hypotension	ORPHA:361
Mend Syndrome	Sacral dimple, Kyphosis, Spotty hypopigmentation, Abnormal heart morphology, Aortic valve stenosi...	ORPHA:401973
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Scoliosis	OMIM:618493
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy, Anemia	ORPHA:3463
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column, Umb...	ORPHA:77301
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies	ORPHA:2050
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Abnormal hair morphology, Splenomega...	OMIM:133540
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Cowden Syndrome 5	Kyphosis, Subcutaneous lipoma, Scoliosis	OMIM:615108
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Kyphosis	OMIM:610475
Cowden Syndrome 6	Kyphosis, Subcutaneous lipoma, Scoliosis	OMIM:615109
Viss Syndrome	Epidural hemorrhage, Right ventricular dilatation, Increased circulating IgG level, Atrial septal...	OMIM:619472
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red muscle fibers, P...	ORPHA:255210
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Small hypothenar...	ORPHA:2232
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Inguinal hernia, Cervical kyphosis, Cerebr...	ORPHA:666
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy, Elevated hemoglobin A1c	OMIM:616539
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Scoliosis	ORPHA:500055
Cono-Spondylar Dysplasia	Kyphosis, Short nail, Scoliosis, Short neck	ORPHA:420794
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Freckling, Hypermelanotic macule, Rhabdomyosarcoma, Kyphosis, Renovas...	ORPHA:97685
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Acromegaly	Generalized hyperpigmentation, Kyphosis, Synophrys, Spinal canal stenosis, Hypertension, Mitral r...	ORPHA:963
Somatomammotropinoma	Generalized hyperpigmentation, Kyphosis, Synophrys, Spinal canal stenosis, Hypertension, Mitral r...	ORPHA:314769
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:2479
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Kypho...	ORPHA:636
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue	ORPHA:2609
Cowden Syndrome	Enlarged polycystic ovaries, Kyphosis, Hypopigmented skin patches, Melanocytic nevus, Multiple ca...	ORPHA:201
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Sacral dimple, Inguinal hernia, Ventricular septal defect, Abnormal pulmona...	ORPHA:268261
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Abnormality of retinal pigmentation,...	ORPHA:191
Coffin-Siris Syndrome 1	Facial hypertrichosis, Sparse scalp hair, Sacral dimple, Inguinal hernia, Ventricular septal defe...	OMIM:135900
Costello Syndrome	Curly hair, Ventricular septal defect, Rhabdomyosarcoma, Short neck, Achilles tendon contracture,...	OMIM:218040
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Hypomimic face, Hirsutism, Contractures of the large joints	OMIM:617527
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger...	ORPHA:96334
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Sacral dimple, Thoracolumbar scoliosis, Patent ductus arteriosus, Depigmentation/hype...	ORPHA:480880
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Hypertension, Scoliosis, Thick eyebrow	ORPHA:2769
Proteus Syndrome	Central heterochromia, Decreased muscle mass, Pulmonary embolism, Abnormal form of the vertebral ...	ORPHA:744
Osteogenesis Imperfecta, Type Iv	Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Yunis-Varon Syndrome	Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Ren...	ORPHA:3472
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Limb hypertonia, Hirsutism, Contractures of the large joints	ORPHA:521426
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes...	OMIM:610915
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,...	ORPHA:3042
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension, Kyphosis	OMIM:610489
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Abnormal...	ORPHA:79318
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Congestive heart failure, K...	ORPHA:558
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia, Knee flexion contracture	OMIM:619708
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Synophrys, Bilateral camptodactyly, Scoliosis	OMIM:619557
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Thick eyebrow	OMIM:162300
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hypertr...	OMIM:618050
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Inc...	ORPHA:508
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Elbow flexion contracture, Knee flex...	OMIM:619194
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Patchy hypo- and hype...	ORPHA:3063
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Kyphosis, Spinal canal stenosis, Abno...	ORPHA:828
Mend Syndrome	Kyphosis, Aortic valve stenosis, Sacral dimple, Spotty hypopigmentation	OMIM:300960
Cdags Syndrome	Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair	OMIM:603116
Occipital Horn Syndrome	Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Hiatus hernia, Kyphos...	OMIM:304150
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Macular scar	OMIM:239000
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Inguinal hernia, Ventricular septal defect, Hypopigment...	ORPHA:821
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Ventricular septal defe...	OMIM:194190
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Ramon Syndrome	Kyphosis, Telangiectasia, Pigmentary retinopathy, Scoliosis, Hypertrichosis	OMIM:266270
Cerebrocostomandibular Syndrome	Kyphosis, Ventricular septal defect	ORPHA:1393
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, H...	OMIM:182250
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Abnormal dental enamel morphology, Kyphosis, Fine hair, Atypi...	ORPHA:534
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Wrinkly Skin Syndrome	Inguinal hernia, Scapular winging, Short nail, Hypoplasia of the musculature, Kyphosis, Muscular ...	OMIM:278250
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Broad eyebrow	ORPHA:457359
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Facial palsy, Kyphosis, Scoli...	ORPHA:2658
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis	OMIM:119600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Absent eyebrow, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Campto...	ORPHA:2273
Coffin-Lowry Syndrome	Inguinal hernia, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Mitral regurgitation, Coarse h...	OMIM:303600
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	ORPHA:171629
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Kyphosis, Absent eyebrow, Abnormal dental enamel morphology	ORPHA:85199
Shprintzen Omphalocele Syndrome	Omphalocele, Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis, Sinus bradycardia	OMIM:619482
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hyperpigmented streaks, Camptod...	OMIM:601803
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Ventricular septal defect, Anterior concavity of thoracic verte...	OMIM:216340
Primrose Syndrome	Hip contracture, Sparse scalp hair, Skeletal muscle atrophy, Absent facial hair, Elevated circula...	OMIM:259050
Branchiooculofacial Syndrome	Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contractur...	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sirt7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sirt7.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
SIRT7 suppresses energy expenditure and thermogenesis by regulating brown adipose tissue functions in mice.	Nature communications (December 2022)	Sirt7^{tm2c(KOMP)Evbo}	PMC9744749
Cardiomyocyte Sirt (Sirtuin) 7 Ameliorates Stress-Induced Cardiac Hypertrophy by Interacting With and Deacetylating GATA4.	Hypertension (Dallas, Tex. : 1979) (November 2019)	Sirt7^{tm2c(KOMP)Evbo}	31735083
SIRT7 has a critical role in bone formation by regulating lysine acylation of SP7/Osterix.	Nature communications (July 2018)	Sirt7^{tm2c(KOMP)Evbo}	PMC6053369
Sirtuin 7 Deficiency Ameliorates Cisplatin-induced Acute Kidney Injury Through Regulation of the Inflammatory Response.	Scientific reports (April 2018)	Sirt7^{tm2c(KOMP)Evbo}	PMC5897539
Sirtuin 7 is involved in the consolidation of fear memory in mice.	Biochemical and biophysical research communications (October 2017)	Sirt7^{tm2c(KOMP)Evbo}	29101029
SIRT7 controls hepatic lipid metabolism by regulating the ubiquitin-proteasome pathway.	Cell metabolism (April 2014)	Sirt7^{tm2c(KOMP)Evbo}	24703702

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sirt7^{tm44025(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sirt7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sirt7^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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