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Gene: Ppara MGI:104740

Gene Summary

Name:

peroxisome proliferator activated receptor alpha

Synonyms:

PPARalpha, Nr1c1, PPAR-alpha, 4933429D07Rik, Ppar

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat appearance	Ppara^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.15×10^-08
abnormal eye anterior chamber depth	Ppara^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.66×10^-06
abnormal skin coloration	Ppara^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.48×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Bone	Wholemount images	heterozygote	Ambiguous
Brown adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	Ambiguous
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Liver	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Vas deferens	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	Not available
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vas deferens	Unavailable
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of left eye

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

14 Images

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Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ppara 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 Ppara (0 diseases)
Human diseases predicted to be associated with Ppara (1426 diseases)

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

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

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod...	OMIM:612526
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c...	OMIM:615980
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis	OMIM:101850
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Dermatoleukodystrophy	Hyperkeratosis	ORPHA:1659
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim...	ORPHA:435660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul...	ORPHA:276575
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizure...	ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis	OMIM:146750
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased c...	ORPHA:276556
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe...	ORPHA:324575
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:171706
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Precocious puberty in femal...	ORPHA:528
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric acidemia	OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:619048
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hypoproteinemia, Ventricular...	ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly	ORPHA:35
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:79087
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase conce...	OMIM:212138
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Sitosterolemia 2	Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia	OMIM:618666
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul...	ORPHA:79237
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ...	OMIM:609500
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lowe...	ORPHA:320360
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit...	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:617872
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid...	OMIM:301033
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem...	ORPHA:79506
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy,...	ORPHA:26792
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiomyopath...	OMIM:232400
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ...	ORPHA:171445
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir...	ORPHA:369
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin re...	ORPHA:79086
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Dilated cardio...	OMIM:610768
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Obesity Due To Sim1 Deficiency	Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote...	ORPHA:369873
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Hypoglycemia, Increased circulating NT-proBNP concentration, Cerebral he...	OMIM:620300
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Foot dorsiflexor weakness	OMIM:618400
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th...	ORPHA:42665
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl...	OMIM:261750
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ...	ORPHA:98911
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Carnitine-Acylcarnitine Translocase Deficiency	Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Rhabdo...	ORPHA:159
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ...	OMIM:606762
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom...	OMIM:255100
Endocardial Fibroelastosis	Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy, A...	ORPHA:2022
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting ...	ORPHA:276608
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper...	OMIM:231530
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva...	ORPHA:399086
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic...	OMIM:246900
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P...	ORPHA:79159
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:609308
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:446
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi...	ORPHA:90065
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog...	ORPHA:264580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	ORPHA:228305
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho...	ORPHA:97287
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ...	ORPHA:280365
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:309930
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli...	ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:79240
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh...	ORPHA:449285
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy, Hypothyroidism	OMIM:619647
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T...	ORPHA:401923
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Sudden cardia...	ORPHA:156
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he...	OMIM:617253
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Abnormal cir...	OMIM:617336
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ...	ORPHA:42
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Hypoglycemia, Decreased liver function	ORPHA:67048
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth, Abnormal...	ORPHA:199276
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:264350
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ...	ORPHA:206546
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferritin concentra...	OMIM:602390
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir...	OMIM:255160
Necrotizing Enterocolitis	Shock, Hyponatremia, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal g...	ORPHA:391673
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila...	ORPHA:34515
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri...	OMIM:609452
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu...	ORPHA:2088
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel...	ORPHA:100080
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Hemochromatosis, Neonatal	Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat...	OMIM:231100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Car...	OMIM:201475
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep...	OMIM:300559
Neutral Lipid Storage Myopathy	Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc...	ORPHA:98908
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Myocardial infarction, Myocard...	ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Porokeratosis 7, Multiple Types	Parakeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis	OMIM:175800
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ...	OMIM:300718
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr...	OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu...	OMIM:619433
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension	OMIM:611489
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, El...	OMIM:269700
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia	ORPHA:94124
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri...	OMIM:601419
Congenital Enterovirus Infection	Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Hypoalbu...	ORPHA:292
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle...	OMIM:612937
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia,...	ORPHA:2394
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100082
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, L...	ORPHA:1177
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Pustule, Abnormality of the adrenal glan...	ORPHA:68
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased...	OMIM:618620
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste...	OMIM:611126
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating...	OMIM:203400
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Bacterial Toxic-Shock Syndrome	Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Hypoalbuminem...	ORPHA:36234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l...	OMIM:613155
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyperlipidemia, I...	ORPHA:91
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infect...	ORPHA:549
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy	OMIM:616483
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis	ORPHA:70578
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci...	OMIM:619424
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormality of the liver	ORPHA:391457
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Steatorrhea	OMIM:260400
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration	ORPHA:363549
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia	OMIM:607250
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Nephrotic Syndrome, Type 11	Ventricular septal defect, Minimal change glomerulonephritis, Dilated cardiomyopathy, Hypoalbumin...	OMIM:616730
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def...	OMIM:615668
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ...	ORPHA:90791
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ...	ORPHA:401768
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension, Hyperuricemia	ORPHA:3222
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Aa Amyloidosis	Adrenal insufficiency, Hypothyroidism, Hypotension, Abnormal heart morphology	ORPHA:85445
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, EMG...	ORPHA:71
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Colchicine Poisoning	Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio...	ORPHA:31824
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100075
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Nipah Virus Disease	Infectious encephalitis, Hypotension	ORPHA:99825
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we...	ORPHA:171442
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:199299
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
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
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration, Acute...	ORPHA:36238
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:98896
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachycardia, Skin rash, Heart block, Elevated circulating creati...	ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypogonadism, Hypoplas...	OMIM:615996
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated circulating cr...	ORPHA:565612
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa...	OMIM:235200
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Perry Syndrome	Hypotension	ORPHA:178509
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type...	ORPHA:171433
Placental Insufficiency	Insulin resistance, Small for gestational age, Abnormal heart morphology	ORPHA:439167
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat...	ORPHA:230
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Restrictive cardiomyopathy, Elevated circulating creatine kinase ...	OMIM:612954
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Hypotension, Telangiectasia macularis erupti...	ORPHA:79455
Combined Oxidative Phosphorylation Deficiency 20	Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Hyperc...	ORPHA:95409
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Galloway-Mowat Syndrome 7	Ventricular septal defect, Eczema, Minimal change glomerulonephritis, Dilated cardiomyopathy, Hyp...	OMIM:618348
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle ...	ORPHA:369840
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Dengue Fever	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop...	ORPHA:119
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Abnormal heart morphology, Decreased liver function, Hypertrophic cardi...	ORPHA:70472
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect	OMIM:615981
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib...	ORPHA:1349
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn...	OMIM:214150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase	OMIM:615160
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension	ORPHA:70587
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Hand muscle w...	ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Lower limb muscle weakness, Elevated...	OMIM:617950
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Hydroxykynureninuria	Stomatitis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Sarcosinemia	Hypertrophic cardiomyopathy, Hypersarcosinemia, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology...	ORPHA:3287
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat...	OMIM:274300
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,...	ORPHA:79301
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla...	ORPHA:3099
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:266150
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Generalized amyotrophy,...	ORPHA:79279
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ...	ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia	OMIM:618958
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Abnormal heart mor...	OMIM:182290
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab...	OMIM:618120
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, H...	OMIM:614702
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Atrial septal def...	ORPHA:769
Meningococcal Meningitis	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Hypotension, Infectious ...	ORPHA:33475
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Hyperprolinemia, Cardiomyopathy, Hyperalaninemia, Neonatal hypoglycemia	OMIM:619046
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:310200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev...	ORPHA:427
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Palmoplantar keratoderma, Ascites	ORPHA:2198
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Acute pancreatitis, Cardiac arrest, Dilated cardiomyopathy, Hyperammonem...	ORPHA:20
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperalaninemia, Cardiomyopathy, Pulmonary arterial hypertension, Hyperprolinemia	OMIM:619003
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Infant Botulism	Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otit...	ORPHA:178478
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept...	OMIM:614300
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Cholera	Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp...	ORPHA:173
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial sept...	OMIM:249270
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:613101
American Trypanosomiasis	Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infectious encephal...	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine...	OMIM:618839
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular...	OMIM:115197
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne...	OMIM:609286
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Mercury Poisoning	Tachycardia, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension	ORPHA:330021
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Hyperglycemia	ORPHA:134
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Ins...	ORPHA:508
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom...	OMIM:266500
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Parakeratosis, Elevated hepatic transaminase, Heart block, S...	ORPHA:398124
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Elevated circulat...	OMIM:300280
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism...	ORPHA:90674
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, M...	ORPHA:746
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Pneumonia, Cardiomegaly, Hypothyr...	OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,...	OMIM:608836
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Nephronophthisis 16	Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615382
Addison Disease	Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:85138
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul...	OMIM:269880
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia	ORPHA:324588
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Donohue Syndrome	Skeletal muscle atrophy, Hyperinsulinemia, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancrea...	OMIM:246200
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis	OMIM:603776
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art...	OMIM:208250
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis	ORPHA:210548
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Increased c...	OMIM:615830
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop...	ORPHA:98909
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hy...	OMIM:613561
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis	OMIM:251000
Lujo Hemorrhagic Fever	Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Adult-Onset Still Disease	Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Myocarditis, Hepa...	ORPHA:829
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa...	OMIM:232500
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,...	ORPHA:79319
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:618378
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Diastasis recti, Neonatal hypoglycemia	ORPHA:231140
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Minimal change glomerulonephritis, Peritonitis, Hypoalb...	ORPHA:567548
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Diffuse palm...	OMIM:601214
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis, Limb hypertonia	OMIM:606054
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Facial palsy, Elevated circulating creatine kinase concentration,...	OMIM:615084
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Congesti...	ORPHA:31826
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Tubulointerstitial nephritis, Hypocalcemia, Prominent U w...	ORPHA:358
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis	OMIM:618398
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b...	OMIM:616719
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:617049
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased muscle mass, Diabetes mellitus, Hypogonadot...	ORPHA:465508
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Increased ser...	ORPHA:100079
Chanarin-Dorfman Syndrome	Myopathy, Hepatic steatosis, Hepatomegaly	OMIM:275630
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve...	OMIM:615962
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Abnormal circulating creatine k...	ORPHA:521411
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis	ORPHA:2724
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula...	OMIM:618835
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive	OMIM:230350
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type...	ORPHA:3191
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta...	ORPHA:2849
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo...	ORPHA:90794
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Gitelman Syndrome	Prolonged QT interval, Hypomagnesemia, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Incr...	OMIM:263800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidem...	ORPHA:79259
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Diabetes mellitus, Myopathy, Cardiomyopathy	ORPHA:1215
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Elevated circulating phytanic acid concentration, Facial palsy	ORPHA:772
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Hypoglycemia	ORPHA:289504
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c...	ORPHA:1194
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co...	OMIM:208920
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Hypothy...	OMIM:617575
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage...	ORPHA:99826
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:85414
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ...	ORPHA:81
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Obesity, Chole...	OMIM:615630
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Serotonin Syndrome	Hypertension, Tachycardia, Rhabdomyolysis, Hypotension	ORPHA:43116
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis	OMIM:620137
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyper...	OMIM:602579
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp...	ORPHA:275761
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis	OMIM:602248
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Elevated circulating phytanic acid concentration	OMIM:614879
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resist...	ORPHA:813
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis...	OMIM:617321
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Flexion contracture, Cardiac arrest	ORPHA:77260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Conges...	ORPHA:367
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Con...	OMIM:613404
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Ventricular septal defect, Precocious puberty, Hyperlipidemia, Obesity, Atrial...	ORPHA:254346
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Galactose Mutarotase Deficiency	Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Bartter Syndrome, Type 3	Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating...	OMIM:607364
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot...	ORPHA:298
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Erythroderma	ORPHA:79456
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:2229
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Ragged...	OMIM:258450
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Truncal obesity, ...	OMIM:616541
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis	ORPHA:455
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypotension	ORPHA:439822
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Ascites, Hepatic failure	ORPHA:79239
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Myopathy, Decreased liver function, Hepatic steatosis	OMIM:614922
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Pustule, Myocarditis, Thyroiditis, Hepatitis, Tubulointerstitial nephr...	ORPHA:139402
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Aggressive Systemic Mastocytosis	Hypotension, Maculopapular exanthema, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ...	OMIM:619051
Pituitary Gigantism	Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact...	ORPHA:99725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Hypoglycemia, Acute rhabdomyolysis	ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D...	OMIM:618329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath...	OMIM:602541
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Ragged-red muscle fibers, Primary adrenal insufficiency, C...	OMIM:530000
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Scedosporiosis	Pericarditis, Sinusitis, Diabetes mellitus, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endoc...	ORPHA:449280
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla...	OMIM:619313
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Perica...	OMIM:212065
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Mitral valve prolapse, Disproportionate tall stature, Hyper...	OMIM:236200
Werner Syndrome	Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Insulin resistance, Thyroid carcinoma, Type ...	ORPHA:902
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy	OMIM:610006
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis	ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,...	ORPHA:819
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Dilated cardi...	ORPHA:352447
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Hyperalaninemia, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:324525
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr...	ORPHA:2848
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c...	OMIM:620326
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia	ORPHA:96
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr...	OMIM:615363
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath...	OMIM:212112
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, A...	ORPHA:428
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Pericarditis,...	OMIM:619487
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Hypertension, Tubulointerstitial nephritis, ...	OMIM:174000
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Shigellosis	Hyponatremia, Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Abnormal blood i...	ORPHA:810
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Cardiomyopathy, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent...	OMIM:266510
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemi...	ORPHA:391665
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ...	ORPHA:66634
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing...	OMIM:607626
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect...	ORPHA:93672
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Pancreatitis, Hyperammonemia	ORPHA:79312
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, Hypotens...	ORPHA:58
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hypertension, F...	OMIM:232200
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Leptospirosis	Pericarditis, Skin rash, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage,...	ORPHA:509
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Acute rhabdomyolysis, Cardiac arrest, Premature thelarche, Elevated circulating cre...	OMIM:616878
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:237800
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	OMIM:276700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Hypoglycemi...	OMIM:245400
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Dilated cardiomy...	OMIM:607155
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Hypotension, Arrhythmia	ORPHA:2135
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st...	ORPHA:436271
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	OMIM:617710
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Pneumonia, Glomerulonephritis, Hematemesis, Elevated circulating c...	ORPHA:340
Adrenomyodystrophy	Primary adrenal insufficiency, Myopathy, Failure to thrive, Hepatic steatosis	ORPHA:977
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H...	ORPHA:470
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad...	ORPHA:892
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Obesity, Male hypogonadism, Atrial septal defect, Hypercholesterol...	OMIM:619471
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit...	ORPHA:466677
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Hypotension, Limb hypertonia	OMIM:608643
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia	OMIM:618182
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Pancreatitis, Hyperammonemia	ORPHA:27
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 33	Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy,...	OMIM:617713
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy, Ascites	OMIM:256550
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Stea...	ORPHA:75233
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, A...	ORPHA:456312
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ...	ORPHA:273
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ...	OMIM:610600
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy...	ORPHA:699
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,...	OMIM:277460
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Cardiomegaly	OMIM:618838
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Hypoglycemia, Skin rash, Hepatitis, Hyperammonemia, Hepatocel...	ORPHA:90062
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hyperammonemia, Hypogonadism, Arrhythmia, Hyperalaninemia, Hypertrophic c...	ORPHA:254913
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Enterocolitis, Bradycardia, H...	ORPHA:90051
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:544469
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:90695
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia...	ORPHA:1133
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:246450
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Elevated circula...	ORPHA:90291
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly	ORPHA:391428
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Rhabd...	OMIM:124000
Noonan Syndrome 8	Ventricular septal defect, Eczema, Patent ductus arteriosus, Mitral regurgitation, Pulmonic steno...	OMIM:615355
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia	ORPHA:95428
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Panniculitis, Cyst...	OMIM:608068
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ...	OMIM:229600
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Galactosemia I	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con...	OMIM:230400
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy	OMIM:619322
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly	ORPHA:1759
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse	OMIM:145350
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l...	ORPHA:247691
Q Fever	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,...	ORPHA:781
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hyp...	ORPHA:17
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:608779
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperk...	ORPHA:466650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon...	OMIM:186580
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondria...	ORPHA:2609
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in m...	OMIM:604377
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea...	ORPHA:370959
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis...	ORPHA:809
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Hyperkeratosis, Syncope, Palmopla...	OMIM:615821
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Atelis Syndrome 2	Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin...	OMIM:620185
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy	OMIM:222300
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Abnorma...	ORPHA:85443
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Pericarditis, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram...	OMIM:220110
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrogenic diabetes insipidus, Hy...	OMIM:620167
Atypical Werner Syndrome	Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Abnormal circulating leptin con...	ORPHA:79474
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hepatosplenomegaly, Hypogonadism, Hernia,...	ORPHA:168569
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Congestive h...	OMIM:615895
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Arthritis, Rhinitis, Chron...	ORPHA:47612
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:96182
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun...	ORPHA:231222
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac...	OMIM:261515
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Hypogonadotropic hypogonadism, Eczema, Recurrent p...	ORPHA:353298
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila...	ORPHA:363623
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Hypoma...	OMIM:223360
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Immunodeficiency 42	Splenomegaly, Hepatomegaly	OMIM:616622
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eczema, Recurrent pneum...	OMIM:616651
Tenorio Syndrome	Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, ...	OMIM:616260
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase	OMIM:615453
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	ORPHA:131
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure	OMIM:229300
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Plague	Chapped lip, Tachycardia, Skin rash, Hematemesis, Lymphadenitis, Erythema nodosum, Enterocolitis,...	ORPHA:707
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Hyperammonemia	OMIM:611719
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricu...	ORPHA:308552
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Hypotension	ORPHA:93256
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Abnormality of the endocrine sy...	ORPHA:79321
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia	OMIM:231670
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon...	ORPHA:900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyo...	ORPHA:480864
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Atrial sept...	OMIM:619991
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Macroves...	OMIM:617303
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Ventricular septal defect...	OMIM:118450
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hypoglycemia	OMIM:616355
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Congestive heart failure, Hypoalbuminemia, Constrictive pericard...	ORPHA:67
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Telangiectasia, He...	OMIM:606003
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Failure to thrive, Inguinal hernia, Small for gestational age, Sle...	OMIM:613658
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Delayed puberty, Mucosa...	ORPHA:324
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis	OMIM:248600
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Abnormality o...	ORPHA:2552
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Arteritis, Prolonged neonatal jaundice	OMIM:233600
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism	OMIM:249310
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He...	ORPHA:73263
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, El...	OMIM:619127
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperglycinemia	OMIM:614299
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97280
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia	ORPHA:79096
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Hypothyroidism	ORPHA:2479
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Silver-Russell Syndrome 1	Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Hellp Syndrome	Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Rhabdomyo...	ORPHA:533
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Generalized hy...	ORPHA:349
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Hypoglycemia	OMIM:608688
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Conc...	OMIM:252010
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circul...	OMIM:219090
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia	OMIM:606407
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebra...	ORPHA:397
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Hyperkalemia, Hypertensio...	ORPHA:544482
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no...	OMIM:601678
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris	ORPHA:79292
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Flexion contracture, Hyperglycemi...	OMIM:609069
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:619802
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Membranoprolife...	ORPHA:48435
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Corneal neova...	OMIM:617388
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, ...	ORPHA:457279
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly...	ORPHA:158687
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin...	OMIM:260370
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of ...	ORPHA:231214
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy, Delayed puberty	ORPHA:496790
Transketolase Deficiency	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Type I ...	ORPHA:488618
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Elevated cir...	ORPHA:1304
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Hypoglycemia, Elbow contracture	OMIM:620275
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy	OMIM:252900
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Refsum Disease	Heart block, Skeletal muscle atrophy, Cardiomyopathy	ORPHA:773
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Immunodeficiency 22	Chronic oral candidiasis, Pericarditis, Panniculitis, Capillary leak	OMIM:615758
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Smith-Kingsmore Syndrome	Hypoglycemia, Diastasis recti	OMIM:616638
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hypertension, Hepatocellular...	OMIM:232240
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Ragged-red mu...	OMIM:607426
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia	OMIM:618253
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi...	OMIM:614736
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated...	OMIM:619525
Shashi-Pena Syndrome	Atrial septal defect, Hypoglycemia, Limb hypertonia	OMIM:617190
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Precocious puberty, In...	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vasculitis, Cardiomyopathy, Prolonged ...	OMIM:225750
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis	OMIM:601979
Familial Mediterranean Fever	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Arthr...	OMIM:249100
Sotos Syndrome	Tall stature, Ventricular septal defect, Muscular ventricular septal defect, Increased body weigh...	OMIM:117550
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Diabetes mellitus	ORPHA:95
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis...	ORPHA:342
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Bloom Syndrome	Small for gestational age, Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c	OMIM:210900
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Prader-Willi Syndrome	Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:176270
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, Hematochezi...	OMIM:615846
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Co...	ORPHA:506
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o...	ORPHA:29207
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin	OMIM:620296
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts	OMIM:613095
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ...	OMIM:164310
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm...	ORPHA:221
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ...	OMIM:241200
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Agel Amyloidosis	Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Orthostatic hypotension due...	ORPHA:85448
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Diastasis recti, Ventricular septal defect, Large for ges...	ORPHA:254534
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Macro...	OMIM:130650
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the...	ORPHA:171
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, High urinary gonadotropin le...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, High urinary gonadotropin le...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, High urinary gonadotropin le...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, High urinary gonadotropin le...	ORPHA:881
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Hermansky-Pudlak Syndrome 1	Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Colitis	OMIM:203300
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia	ORPHA:572798
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
D-Glyceric Aciduria	Hypoglycemia, Bradycardia	OMIM:220120
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona...	OMIM:230800
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Cardiomyopathy, Myopathy, Hypogonadism, Delayed p...	ORPHA:3463
African Trypanosomiasis	Abnormal EKG, Pericarditis, Abnormality of the endocrine system, Myocarditis, Congestive heart fa...	ORPHA:3385
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Nocardiosis	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis...	ORPHA:31204
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexion contracture, Generalized l...	OMIM:619183
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Hyperammonemia, Type 2 muscle fiber predominance, Arrhythmia, Hyperalani...	OMIM:615471
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Panc...	OMIM:267000
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal ...	ORPHA:251071
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr...	ORPHA:96253
Hurler Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Cardiomy...	ORPHA:93473
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi...	OMIM:605275
Congenital Disorder Of Glycosylation, Type Ig	Patent foramen ovale, Hypoglycemia	OMIM:607143
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Hypersplenism, Splenomegaly, Pulmonary arterial hypertension,...	ORPHA:77259
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Limb j...	ORPHA:404454
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatic steatosis, Limb-girdle muscular dystrophy, Hepatomegaly	OMIM:615356
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614052
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia	ORPHA:469
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Erythema ...	ORPHA:228123
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
Martsolf Syndrome 1	Cardiomyopathy, Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart failure	OMIM:212720
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal...	ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hyperparathyroidism, Hypoammonemia, Abnormal dental enamel morphol...	ORPHA:534
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Bradycardia, Congenital foot contractures, Limb hypertonia	ORPHA:565624
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Mirage Syndrome	Intracranial hemorrhage, Hypoplastic spleen, Hypoglycemia	OMIM:617053
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Restrictive cardiomyopathy, Cholelithiasis	ORPHA:822
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio...	OMIM:607014
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glucose intolerance, Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, Glycosuria	OMIM:616539
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ...	OMIM:239200
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, C...	ORPHA:116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocell...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular lipid droplets, Mic...	OMIM:220111
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Joint contracture, Hypoglycemia	OMIM:618005
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion...	ORPHA:505248
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur...	ORPHA:90340
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr...	OMIM:616564
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger, Hypoglycemia, Palmoplantar keratoderma, Arrhy...	ORPHA:2710
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f...	OMIM:602782
Vici Syndrome	Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa...	OMIM:242840
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Female hypogonadism, Mitral stenosis, Decrea...	ORPHA:740
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Diastasis recti, Neonatal hypoglycemia	ORPHA:457485
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,...	ORPHA:3455
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Arima Syndrome	Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Hypoglycemia, Telangiectasia, Intracranial hemorrhage, ...	ORPHA:109
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Precocious puberty, Flexion contracture, Increased body weight, Absence of pu...	ORPHA:398069
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Primary Hyperoxaluria	Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent ...	ORPHA:416
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morphology,...	ORPHA:579
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Precocious puberty, Splenomegaly, Cholestatic liver dise...	OMIM:270400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein conce...	ORPHA:449395
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Hypertrophic cardiomyopathy	OMIM:618222
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Car...	ORPHA:365
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Telangiectasia of the skin, Hypoglycemia	OMIM:616007
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia	OMIM:614501
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis	OMIM:603903
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture...	OMIM:253220
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca...	OMIM:619745
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Kikuchi-Fujimoto Disease	Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Vasculiti...	ORPHA:50918
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral reg...	OMIM:253200
Anemia, Congenital Dyserythropoietic, Type Iv	Hypothyroidism, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic cardiomyopathy,...	OMIM:613673
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia	ORPHA:447788
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Holoprosencephaly	Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital dia...	ORPHA:2162
Diaphanospondylodysostosis	Abnormal liver lobulation, Enlarged kidney	OMIM:608022
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Hypoglycemia	OMIM:210210
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Hypoglycemia	OMIM:620224
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Hypoglycemia	ORPHA:90790
Ogden Syndrome	Inguinal hernia, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, ...	OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis	OMIM:619321
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Hypogona...	ORPHA:79318
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Neonatal hypoglycemia, Pulmonic stenosis	OMIM:300867
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus	OMIM:615398
Alg12-Cdg	Elevated hepatic transaminase, Muscular ventricular septal defect, Biventricular hypertrophy, Rec...	ORPHA:79324
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ...	OMIM:188400
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phe...	OMIM:613471
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul...	ORPHA:508542
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Aspiration pneumonia	ORPHA:79255
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy	OMIM:616084
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Atrial septal defect, Small for gestational age, Bicuspid aortic v...	ORPHA:84064
Mitochondrial Dna-Associated Leigh Syndrome	Cardiac conduction abnormality, Low plasma citrulline, Dilated cardiomyopathy, Ragged-red muscle ...	ORPHA:255210
Menkes Disease	Gastrointestinal hemorrhage, Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculature, ...	ORPHA:565
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,...	ORPHA:97214
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Ove...	OMIM:619475
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ...	ORPHA:580
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f...	OMIM:619503
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca...	ORPHA:1272
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the spleen, Hypothyroidi...	ORPHA:1606
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid...	OMIM:601992
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Diastasis recti, Increased serum beta-hexosaminidase, Cardiomegaly, Congest...	OMIM:252500
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Acne, Elevated circulating growth hormone conce...	ORPHA:963
Leopard Syndrome 1	Bundle branch block, Scapular winging, Delayed menarche, Complete atrioventricular canal defect, ...	OMIM:151100
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Toriello-Carey Syndrome	Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, ...	ORPHA:3338
Multiple Endocrine Neoplasia, Type I	Insulinoma, Hypoglycemia, Pancreatic islet cell adenoma	OMIM:131100
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Cartilage-Hair Hypoplasia	Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Abnormal cardi...	ORPHA:175
Trichothiodystrophy	Congenital exfoliative erythroderma, Multiple joint contractures, Ventricular septal defect, Ecze...	ORPHA:33364
Deeah Syndrome	Hepatomegaly, Decreased heart rate variability, Neonatal hypoglycemia, Exocrine pancreatic insuff...	OMIM:619004
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Costello Syndrome	Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Mitral va...	OMIM:218040
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia	ORPHA:25
Castleman Disease	Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration	ORPHA:160
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Diabetes mellitus, Chilblains, Cardiomegaly, Raynaud pheno...	ORPHA:51
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Flexion contracture, Abse...	OMIM:264090
Cystic Fibrosis	Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failu...	OMIM:219700
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis	ORPHA:79430
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Leukocyte Adhesion Deficiency	Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk...	ORPHA:2968
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Eczema, Pulmonic stenosis, Atrial septal defect,...	OMIM:607721
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow...	ORPHA:363958
Carney Complex	Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Dorsocervical fat pad, Follicula...	ORPHA:1359
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Pineal cyst, Atrial septal defect, Hypertrop...	OMIM:600268
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop...	ORPHA:90324
Tetrasomy 9P	Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Arthritis, Abnormal cardiac septum morp...	ORPHA:3310
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Ayme-Gripp Syndrome	Pericarditis, Camptodactyly	OMIM:601088
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo...	ORPHA:797
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Bradycardia, Neonatal hypoglycemia	OMIM:617248
Neurooculorenal Syndrome	Dextrocardia, Mitral valve prolapse, Recurrent hypoglycemia, Tetralogy of Fallot with pulmonary s...	OMIM:620305
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Hypothyroidi...	OMIM:243800
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:135500
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,...	ORPHA:3472
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Abno...	ORPHA:97685
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re...	ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Camurati-Engelmann Disease	Skeletal muscle atrophy, Facial palsy, Hypogonadism, Delayed puberty, Hypertrophic cardiomyopathy	ORPHA:1328
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Glycosuria	ORPHA:3337
Holoprosencephaly 1	Hypoglycemia, Single ventricle	OMIM:236100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Neonatal hypoglycemia	ORPHA:457359
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Synovitis, Hypogonadism, Pulmonic stenosis, ...	OMIM:163950
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal circulating thyroid hormone concentration, Patent ductus arteriosus, Cardiomyopathy, Del...	ORPHA:480880
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Joint contracture of the hand, Hypoglycemia, Camptodactyly	OMIM:201750
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F...	ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial...	OMIM:216340

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 Ppara

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 Ppara.

There are 11 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
NAAA-regulated lipid signaling in monocytes controls the induction of hyperalgesic priming in mice.	Nature communications (February 2024)	Ppara^{tm1c(EUCOMM)Wtsi}	PMC10894261
Cardiac specific knock-down of peroxisome proliferator activated receptor α prevents fasting-induced cardiac lipid accumulation and reduces perilipin 2.	PloS one (March 2022)	Ppara^{tm1a(EUCOMM)Wtsi}	PMC8903264
Disruption of peroxisome proliferator-activated receptor α in hepatocytes protects against acetaminophen-induced liver injury by activating the IL-6/STAT3 pathway.	International journal of biological sciences (March 2022)	Ppara^{tm1c(EUCOMM)Wtsi}	PMC8990472
Reprogramming of glucocorticoid receptor function by hypoxia.	EMBO reports (October 2021)	Ppara^{tm1a(EUCOMM)Wtsi}	34699114
Feedback repression of PPARα signaling by Let-7 microRNA.	Cell reports (August 2021)	Ppara^{tm1c(EUCOMM)Wtsi}	PMC8424520
Shared PPARα/γ Target Genes Regulate Brown Adipocyte Thermogenic Function.	Cell reports (March 2020)	Ppara^{tm1c(EUCOMM)Wtsi}	32130908
Hepatocyte peroxisome proliferator-activated receptor α regulates bile acid synthesis and transport.	Biochimica et biophysica acta. Molecular and cell biology of lipids (June 2019)	Ppara^{tm1c(EUCOMM)Wtsi}	31195146
Intestinal PPARα Protects Against Colon Carcinogenesis via Regulation of Methyltransferases DNMT1 and PRMT6.	Gastroenterology (May 2019)	Ppara^{tm1c(EUCOMM)Wtsi}	PMC7388731
Extrahepatic PPARα modulates fatty acid oxidation and attenuates fasting-induced hepatosteatosis in mice.	Journal of lipid research (August 2018)	Ppara^{tm1a(EUCOMM)Wtsi}	30158201
FGF21 Prevents Angiotensin II-Induced Hypertension and Vascular Dysfunction by Activation of ACE2/Angiotensin-(1-7) Axis in Mice.	Cell metabolism (April 2018)	Ppara^{tm1c(EUCOMM)Wtsi}	29706566
Hepatocyte-specific PPARA expression exclusively promotes agonist-induced cell proliferation without influence from nonparenchymal cells.	American journal of physiology. Gastrointestinal and liver physiology (January 2017)	Ppara^{tm1a(EUCOMM)Wtsi}	PMC5401987

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MGI Allele	Allele Type	Produced
Ppara^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppara^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ppara^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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Gene: Ppara MGI:104740

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Eye Morphology

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Eye Morphology

Eye Morphology

Eye Morphology

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Human diseases caused by Ppara mutations

Histopathology

IMPC related publications

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