Gene: Hsd11b1 MGI:103562

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

hydroxysteroid 11-beta dehydrogenase 1

Synonyms:

11beta-HSD-1, 11beta-hydroxysteroid dehydrogenase type 1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hsd11b1 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 Hsd11b1 (1 diseases)
Human diseases predicted to be associated with Hsd11b1 (551 diseases)

The table below shows human diseases associated to Hsd11b1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cortisone Reductase Deficiency 2		Insulin resistance, Obesity, Premature pubarche	OMIM:614662

The table below shows human diseases predicted to be associated to Hsd11b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bulimia Nervosa, Susceptibility To	Bulimia	OMIM:607499
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Adrenal Hypoplasia, Cytomegalic Type	Primary adrenal insufficiency, Congenital adrenal hypoplasia	OMIM:202155
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal enzyme/coenzyme activity	OMIM:125460
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome	OMIM:103900
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ...	OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly...	OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole...	OMIM:610947
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:256450
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Primary Pigmented Nodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ...	ORPHA:189439
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo...	OMIM:601820
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al...	ORPHA:3453
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Hyp...	ORPHA:181393
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ...	ORPHA:189427
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss...	OMIM:604367
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Recurren...	OMIM:616000
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel...	OMIM:615830
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ...	OMIM:610717
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular...	OMIM:219080
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,...	OMIM:616829
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	ORPHA:363400
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-...	ORPHA:403
Acth-Independent Macronodular Adrenal Hyperplasia 2	Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le...	OMIM:615954
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t...	ORPHA:71529
Macrosomia Adiposa Congenita	Polyphagia	OMIM:248100
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating...	ORPHA:90790
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins...	ORPHA:436182
Akt2-Related Familial Partial Lipodystrophy	Hyperlipidemia, Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Hypertriglyceridemia, L...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane...	ORPHA:435660
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa...	OMIM:619868
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:151660
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Temple Syndrome	Flexion contracture, Maturity-onset diabetes of the young, Hypertriglyceridemia, Decreased testic...	OMIM:616222
Body Mass Index Quantitative Trait Locus 20	Polyphagia	OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Cholesteryl Ester Storage Disease	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem...	ORPHA:75234
Hyperinsulinemic Hypoglycemia, Familial, 6	Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo...	OMIM:606762
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Hypertrigl...	OMIM:619013
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H...	OMIM:616828
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide lev...	ORPHA:528
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci...	OMIM:610600
Cidec-Related Familial Partial Lipodystrophy	Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease...	ORPHA:435651
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I...	ORPHA:90793
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis...	OMIM:614480
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased lev...	ORPHA:79237
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Hypercholestero...	OMIM:301033
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ...	ORPHA:90791
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus,...	ORPHA:79084
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig...	OMIM:615238
Transient Neonatal Diabetes Mellitus	Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you...	ORPHA:99886
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Mandibuloacral Dysplasia	Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc...	ORPHA:2457
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Obesity, Hyperphagia, And Developmental Delay	Polyphagia	OMIM:613886
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr...	ORPHA:71526
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce...	OMIM:278000
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Elevated hepatic transaminase, Lipodystr...	OMIM:615381
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia	OMIM:222100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia	ORPHA:329249
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Abnormality of the thyroid gland, Cognitive impairment, Memo...	ORPHA:77296
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co...	ORPHA:556037
Pparg-Related Familial Partial Lipodystrophy	Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Polycystic ...	ORPHA:79083
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Congenital Analbuminemia	Hyperlipidemia, Facial edema, Hypoproteinemia, Increased alpha-globulin, Recurrent lower respirat...	ORPHA:86816
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Cognitive impairment, Hypoglycemia, Hyperuricemia, Recurrent respiratory infections	ORPHA:364
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated...	OMIM:619386
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai...	OMIM:606069
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Polycystic ovaries, Hypertrigl...	ORPHA:2348
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Peritonitis, Pulmonary embolism, Hypertriglyceridemia, ...	ORPHA:567548
Leptin Deficiency Or Dysfunction	Polyphagia, Abnormal eating behavior	OMIM:614962
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated...	OMIM:617156
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure	OMIM:261650
Citrullinemia, Type Ii, Neonatal-Onset	Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper...	OMIM:605814
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co...	ORPHA:556030
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Hypercholesterolemia	ORPHA:254531
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia,...	OMIM:619048
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de...	OMIM:202010
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Pulmonary arter...	ORPHA:369929
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Primary Lipodystrophy	Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Po...	ORPHA:90970
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis, Respiratory distress, Ketoti...	ORPHA:26792
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia	ORPHA:633
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Premature pubarche	OMIM:201810
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc...	ORPHA:247585
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res...	ORPHA:324575
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance	OMIM:144600
Generalized Glucocorticoid Resistance Syndrome	Decreased circulating aldosterone level, Hypokalemia, Precocious puberty, Increased circulating c...	ORPHA:786
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatocellular carcinoma, Elevated cir...	ORPHA:370
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic...	OMIM:617872
Cushing Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating...	ORPHA:96253
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:255120
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia	ORPHA:96181
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br...	OMIM:613490
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, C...	OMIM:603471
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ...	OMIM:248370
Cog4-Cdg	Cirrhosis, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Elevated hepatic tra...	ORPHA:263501
Cushing Syndrome Due To Ectopic Acth Secretion	Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Pedal edema, Small ...	ORPHA:99889
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer...	OMIM:619662
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o...	ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Elevated circulating creatine kinase c...	ORPHA:264580
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep...	ORPHA:209902
Familial Chylomicronemia Syndrome	Hyperlipidemia, Jaundice, Hepatosplenomegaly, Pulmonary embolism, Memory impairment, Acute pancre...	ORPHA:444490
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Dysbetalipoproteinemia	Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A...	ORPHA:412
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci...	ORPHA:369
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycystic ovaries, Hepatocellular c...	ORPHA:79240
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carni...	OMIM:212140
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa...	ORPHA:280365
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Chylomicron Retention Disease	Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H...	OMIM:246700
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Pick Disease Of Brain	Polyphagia	OMIM:172700
Bardet-Biedl Syndrome 22	Polyphagia	OMIM:617119
Alstrom Syndrome	Asthma, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ho...	OMIM:203800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif...	ORPHA:276580
Acquired Aneurysmal Subarachnoid Hemorrhage	Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hypothyroidism, Hy...	ORPHA:90065
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp...	ORPHA:95699
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cognitive impairment, Mental deterioration, Elevated circulating creatine kinase concentration, H...	OMIM:208920
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated circulating creatine ...	OMIM:613327
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty, Hypercholesterolemia	ORPHA:96184
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Leptin Receptor Deficiency	Polyphagia, Abnormal eating behavior	OMIM:614963
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Acute hepatic ...	ORPHA:71212
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Hypertriglyceridemia, Abnormality of the pulmonary artery, Emphysema, Abnormal intra...	ORPHA:363618
Obesity Due To Sim1 Deficiency	Polyphagia	ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia	OMIM:609734
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Glucose intolerance, Insulin resistance, Pulmonary arteriove...	OMIM:606721
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating a...	OMIM:261680
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Hypotonia-Cystinuria Syndrome	Polyphagia	ORPHA:163690
Lysosomal Acid Lipase Deficiency	Hepatic failure, Steatorrhea, Jaundice, Dehydration, Elevated hepatic transaminase, Primary adren...	ORPHA:275761
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif...	ORPHA:276575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati...	OMIM:619418
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa...	OMIM:301045
Glycogen Storage Disease Iii	Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E...	OMIM:232400
Seckel Syndrome 10	Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele...	OMIM:617253
Frontotemporal Dementia	Polyphagia	OMIM:600274
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Respiratory insufficiency, Elevated cir...	OMIM:615486
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Hyperlipoproteinemia, Type V	Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ...	OMIM:144650
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc...	ORPHA:42
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:608594
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne...	ORPHA:90674
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis...	OMIM:231100
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia	OMIM:616521
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab...	OMIM:262190
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated...	OMIM:613027
Birt-Hogg-Dubé Syndrome	Pulmonary sequestration, Medullary thyroid carcinoma, Parathyroid adenoma, Multiple lipomas, Emph...	ORPHA:122
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep...	OMIM:269700
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia	ORPHA:177910
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia	OMIM:182290
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Mody	Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi...	ORPHA:552
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pulmonary venous hypertension, Hyperlipidemia, Pancreatitis, Hepatomegaly, Cognitive impairment, ...	ORPHA:79259
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete...	OMIM:616033
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology	ORPHA:99852
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato...	ORPHA:470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor...	ORPHA:247598
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Glycosuria, Elevated circulating glutaric acid conc...	OMIM:231680
Hypermethioninemia Due To Adenosine Kinase Deficiency	Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t...	OMIM:614300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Hyperammonemia, E...	OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:608836
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st...	OMIM:201450
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration...	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatic steatosis	OMIM:615595
Idiopathic Bronchiectasis	Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato...	ORPHA:60033
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Respiratory arrest, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating ...	OMIM:600649
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Corneal scarring, Viral hepatitis, Periportal fibro...	ORPHA:101330
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in...	ORPHA:348
Chromosome 22Q13 Duplication Syndrome	Polyphagia	OMIM:615538
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ...	ORPHA:228308
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Cognitive impairment	ORPHA:1532
Emphysema, Hereditary Pulmonary	Chronic pulmonary obstruction, Chronic bronchitis, Emphysema	OMIM:130700
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice	ORPHA:60
Hemochromatosis Type 4	Increased circulating ferritin concentration, Joint swelling, Cirrhosis, Congenital hepatic fibro...	ORPHA:139491
Sarcoidosis, Susceptibility To, 2	Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology...	OMIM:612387
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops...	OMIM:212065
Bronchopulmonary Dysplasia	Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog...	ORPHA:70589
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase	OMIM:617093
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ...	OMIM:256810
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Mental deterioration, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, ...	OMIM:617575
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti...	ORPHA:79127
Adrenocortical Hypofunction, Chronic Primary Congenital	Adrenal insufficiency, Decreased circulating cortisol level	OMIM:103230
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:264470
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo...	ORPHA:228305
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steatorrhea, Abnormal se...	ORPHA:79303
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia	OMIM:601466
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra...	OMIM:616834
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Central sleep apnea, Progressive neurologic deterioration, Hepatic stea...	ORPHA:70472
Wilson Disease	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly...	OMIM:277900
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h...	ORPHA:1501
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega...	OMIM:235200
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple...	ORPHA:567983
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato...	ORPHA:369840
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia	ORPHA:411515
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron...	OMIM:238600
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva...	OMIM:300972
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Respiratory insufficiency, Abnormal brainstem MRI signal intensity	ORPHA:263410
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration...	ORPHA:2959
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin...	OMIM:614921
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevated circulating aspa...	OMIM:617049
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Bile duct proliferation, Respiratory failure, Cirrhosis, Abnormal pulmonary intersti...	OMIM:613658
Chylomicron Retention Disease	Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipid d...	ORPHA:71
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E...	OMIM:212138
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce...	ORPHA:276556
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity	ORPHA:791
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Decreased DLCO, Emph...	OMIM:618913
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ...	OMIM:615558
Ddost-Cdg	Primary hypothyroidism, Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis	ORPHA:300536
6Q16 Microdeletion Syndrome	Polyphagia	ORPHA:171829
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Cirrhosis, Emphysema, Portal hypertension, Hepatic failure	OMIM:210050
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Respiratory failure, Pneumo...	ORPHA:445038
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Short term memory impairment, Hypertriglyceridemia, Xant...	OMIM:277460
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibr...	OMIM:616263
Graves Disease, Susceptibility To, 1	Polyphagia	OMIM:275000
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia	OMIM:615986
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture, Dehydration, Polyhydramnios, Recurrent pneumonia, Neon...	OMIM:616271
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis...	ORPHA:541423
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased hepatocellular lipid droplet...	OMIM:220111
Huntington Disease	Polyphagia, Choking episodes, Oral-pharyngeal dysphagia	ORPHA:399
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Acute hepatic failure, Elevated...	ORPHA:99901
Galloway-Mowat Syndrome 7	Edema, Hypercholesterolemia	OMIM:618348
Adrenomyodystrophy	Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis	OMIM:300270
Smith-Magenis Syndrome	Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia	ORPHA:819
Lennox-Gastaut Syndrome	Mental deterioration, Abnormal brainstem morphology	ORPHA:2382
19P13.12 Microdeletion Syndrome	Precocious puberty, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita, Cryptorch...	ORPHA:254346
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Emphysema	ORPHA:171719
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Temple Syndrome	Polyphagia	ORPHA:254516
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Agenesis of corpus callosum, Abnormal circulating pyruvate family amino acid concentration, Abnor...	ORPHA:255182
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity	ORPHA:3085
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology	ORPHA:411493
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoketotic hypoglycemia, Hypoglycemic seizures, Hepatic necrosis, Hep...	OMIM:231530
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis	OMIM:614924
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon...	ORPHA:199296
Aromatase Deficiency	Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Macroorchidism, postpu...	ORPHA:91
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia	ORPHA:156
Dpm1-Cdg	Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Pontocerebe...	ORPHA:79322
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur...	ORPHA:90041
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum testosterone concentration, Decreased circulating androgen concentration, Elevate...	ORPHA:90796
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Corneal stromal ed...	ORPHA:699
Cebalid Syndrome	Polyphagia	OMIM:618774
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad...	ORPHA:453533
Allergic Bronchopulmonary Aspergillosis	Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension	ORPHA:1164
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Emphysema	OMIM:614100
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc...	OMIM:618156
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Weakness of muscles of respiration, Elevated circulating creatine kinase concentration, Hepatic s...	ORPHA:52430
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu...	ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hyperprolinemia, Hepatic steatosis	OMIM:615918
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery ...	OMIM:611812
Wilson Disease	Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic tr...	ORPHA:905
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Respiratory insufficiency, Macrovesicular hepatic steatosis, Progressiv...	OMIM:618329
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia, Camptodactyly	ORPHA:444051
Steinert Myotonic Dystrophy	Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Mental deterioration, Hypergonadotropic hyp...	ORPHA:273
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ...	OMIM:618641
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Multiple Endocrine Neoplasia, Type I	Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ...	OMIM:131100
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra...	ORPHA:98908
Megalocornea-Mental Retardation Syndrome	Primary hypothyroidism, Hypercholesterolemia	OMIM:249310
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating aspartate aminot...	OMIM:619534
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu...	OMIM:618838
2Q23.1 Microdeletion Syndrome	Polyphagia	ORPHA:228402
Solitary Fibrous Tumor/Hemangiopericytoma	Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Neoplasm of the lung, Abnormali...	ORPHA:2126
Atypical Werner Syndrome	Hyperinsulinemia, Lipoatrophy, Type II diabetes mellitus, Ovarian neoplasm, Chondrocalcinosis, Ge...	ORPHA:79474
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Elevate...	ORPHA:98907
Polymicrogyria Due To Tubb2B Mutation	Cognitive impairment, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle di...	ORPHA:300573
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure...	OMIM:619573
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elongated superior cerebellar peduncle, Elevated circulating creatine kinase concentration, Abnor...	ORPHA:370022
Bare Lymphocyte Syndrome, Type I	Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis	OMIM:604571
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Macrovesicular hepatic ...	ORPHA:298
Schaaf-Yang Syndrome	Polyphagia	OMIM:615547
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h...	ORPHA:263455
Spinocerebellar Ataxia Type 1	Cognitive impairment, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology...	ORPHA:98755
Hypocomplementemic Urticarial Vasculitis	Airway obstruction, Hepatomegaly, Splenomegaly, Cough, Angioedema, Pleural effusion, Emphysema, R...	ORPHA:36412
Doors Syndrome	Respiratory distress, Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Polyh...	ORPHA:79500
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,...	ORPHA:14
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hypothyroidi...	OMIM:619487
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Man1B1-Cdg	Polyphagia	ORPHA:397941
Hypotonia-Cystinuria Syndrome	Polyphagia	OMIM:606407
Monosomy 13Q34	Insulin resistance, Infantile hypercalcemia, Hepatic steatosis, Epistaxis, Agenesis of corpus cal...	ORPHA:96168
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure	OMIM:615438
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Atrophy/Degeneration affecting the brainstem, Elevated circulat...	ORPHA:66634
Trisomy 18P	Polyphagia	ORPHA:1715
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles...	ORPHA:53693
Sitosterolemia 1	Splenomegaly, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperchol...	OMIM:210250
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Alagille Syndrome 1	Exocrine pancreatic insufficiency, Peripheral pulmonary artery stenosis, Hepatic failure, Cirrhos...	OMIM:118450
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Lymphedema, Hepatomegaly, Abnormal brainstem morphology	ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin...	OMIM:618835
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Increased circulating copper concentration, Hepatic steatosis	ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin...	OMIM:618839
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti...	OMIM:610921
Bardet-Biedl Syndrome 20	Asthma, Pancreatitis, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia, Bil...	OMIM:619471
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, C...	OMIM:611126
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia, Respiratory insufficiency, Cholestasi...	ORPHA:746
Peroxisome Biogenesis Disorder 3B	Hypocholesterolemia, Steatorrhea	OMIM:266510
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Apnea	OMIM:210200
Hypophosphatasia	Respiratory insufficiency, Hypercalcemia, Emphysema	ORPHA:436
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ...	OMIM:608612
Achondroplasia	Upper airway obstruction, Brain stem compression	OMIM:100800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia	OMIM:610644
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov...	OMIM:613070
Donohue Syndrome	Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr...	OMIM:246200
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Dehydration, Tachypnea, A...	ORPHA:20
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hydrocele testis, Exocrine pancreatic insufficiency...	OMIM:619991
Hypoadrenocorticism, Familial	Adrenal insufficiency, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia	OMIM:240200
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent bronchopulmonary infections, Flexion contracture, S...	OMIM:617303
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Increased circulating prolactin concentration, Central diabetes insipidus, Hyperglycemia, Recurre...	ORPHA:293987
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis	OMIM:236200
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Oculocerebrorenal Syndrome Of Lowe	Abnormal calcium-phosphate regulating hormone level, Joint swelling, Hypophosphatemia, Hypokalemi...	ORPHA:534
Bloom Syndrome	Type II diabetes mellitus, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,...	OMIM:210900
Congenital Muscular Dystrophy With Cerebellar Involvement	Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Abnormal brainstem mo...	ORPHA:370959
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Hepatomegaly, Flexion contracture, Hypoglycemia, Elevated hepatic tr...	ORPHA:17
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Pontocerebellar atrophy, Lipodyst...	OMIM:619273
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
X-Linked Cerebral Adrenoleukodystrophy	Hamstring contractures, Abnormal circulating fatty-acid concentration, Decreased circulating cort...	ORPHA:139396
D-Bifunctional Protein Deficiency	Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Primary adrenal insuffici...	OMIM:261515
Glycogen Storage Disease Ia	Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Elevated hepa...	OMIM:232200
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Pediatric-Onset Graves Disease	Polyphagia, Polydipsia	ORPHA:525731
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Decreased circulating renin level, Abnormality of circul...	ORPHA:320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology	ORPHA:163961
X-Linked Acrogigantism	Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h...	ORPHA:300373
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Recurrent lower respira...	OMIM:615846
Acute Adrenal Insufficiency	Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat...	ORPHA:95409
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea	OMIM:607765
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Aplasia of the thymus, Hepatosplenomegaly, Recurrent pneum...	OMIM:242700
3-Methylglutaconic Aciduria, Type V	Cryptorchidism, Microvesicular hepatic steatosis, Decreased testicular size	OMIM:610198
Luscan-Lumish Syndrome	Polyphagia	OMIM:616831
Osteootohepatoenteric Syndrome	Asthma, Hypokalemia, Microvesicular hepatic steatosis, Dehydration, Cholestasis, Hepatic fibrosis...	OMIM:619377
Septopreoptic Holoprosencephaly	Precocious puberty, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morpholog...	ORPHA:280195
Joubert Syndrome 7	Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ...	OMIM:611560
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De...	ORPHA:199299
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Polyphagia	OMIM:607485
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hypocholesterolemia, De...	ORPHA:96180
Mandibuloacral Dysplasia Progeroid Syndrome	Glucose intolerance, Hepatomegaly, Flexion contracture, Elevated hemoglobin A1c, Generalized lipo...	OMIM:619127
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Flexion contracture, Cognitive impairment, Abnormal brainstem MRI signal intensity, Pontocerebell...	ORPHA:258
Slc35A2-Cdg	Precocious puberty, Increased circulating thyroglobulin level, Camptodactyly of finger, Atrophy/D...	ORPHA:356961
Hydrolethalus Syndrome 1	Accessory spleen, Adrenal gland dysgenesis, Abnormal lung lobation, Polyhydramnios, Omphalocele, ...	OMIM:236680
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia	OMIM:615812
Adrenomyodystrophy	Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Secondary Short Bowel Syndrome	Polyphagia	ORPHA:95427
Arima Syndrome	Hepatomegaly, Tachypnea, Hepatic fibrosis, Dyspnea, Hepatic steatosis, Molar tooth sign on MRI, B...	OMIM:243910
Estrogen Resistance Syndrome	Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ...	ORPHA:785
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatic steatosis, Hepatomegaly	OMIM:614922
Combined Oxidative Phosphorylation Deficiency 27	Mental deterioration, Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Oligohydramnios, R...	OMIM:219100
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis, Exertional dyspnea...	ORPHA:436271
Gangliocytoma	Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm...	ORPHA:251937
Lymphangioleiomyomatosis	Chylopericardium, Chylothorax, Cognitive impairment, Cough, Shagreen patch, Lymphedema, Restricti...	ORPHA:538
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Elevated h...	OMIM:124000
Turner Syndrome Due To Structural X Chromosome Anomalies	Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete...	ORPHA:99413
Turner Syndrome	Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete...	ORPHA:881
Mosaic Monosomy X	Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete...	ORPHA:99228
Monosomy X	Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete...	ORPHA:99226
Glycogen Storage Disease Ib	Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Fructose Intolerance, Hereditary	Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hypoglycemia...	OMIM:229600
Alström Syndrome	Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He...	ORPHA:64
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precocious puberty, Splen...	OMIM:270400
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
Netherton Syndrome	Asthma, Dehydration, Recurrent respiratory infections, Emphysema	ORPHA:634
Japanese Encephalitis	Respiratory distress, Abnormal pons morphology, Pulmonary edema, Inappropriate antidiuretic hormo...	ORPHA:79139
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Resp...	OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 1	Polyphagia	OMIM:156200
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia	ORPHA:251004
Ogden Syndrome	Hydrocele testis, Apnea, Pulmonary hypoplasia, Umbilical hernia, Jaundice, Peripheral pulmonary a...	OMIM:300855
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated...	OMIM:203700
Meningioma	Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ...	ORPHA:2495
Angelman Syndrome	Dysphagia, Polyphagia	ORPHA:72
Leigh Syndrome With Cardiomyopathy	Respiratory distress, Decreased liver function, Apnea, Mental deterioration, Central hypoventilat...	ORPHA:70474
Leigh Syndrome	Multiple joint contractures, Hepatic failure, Abnormal brainstem MRI signal intensity, Progressiv...	ORPHA:506
Addison Disease	Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti...	ORPHA:85138
Nocardiosis	Respiratory distress, Cellulitis, Nonproductive cough, Peritonitis, Abnormality of the adrenal gl...	ORPHA:31204
Familial Acute Necrotizing Encephalopathy	Abnormal pattern of respiration, Cerebral edema, Abnormal brainstem morphology, Abnormal brainste...	ORPHA:88619
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Polyphagia	ORPHA:251028
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome	Polyphagia	OMIM:612469
Fabry Disease	Hyperlipidemia, Chronic pulmonary obstruction, Cognitive impairment, Abnormal circulating lipid c...	ORPHA:324
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,...	ORPHA:88673
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal scarring, Microvesicular hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Splenom...	ORPHA:404454
Arnold-Chiari Malformation Type Ii	Apnea, Aqueductal stenosis, Abnormal medulla oblongata morphology, Inspiratory stridor, Partial a...	ORPHA:1136
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Diabetes...	OMIM:616026
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Asple...	OMIM:273395
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp...	OMIM:232240
Common Variable Immunodeficiency	Splenomegaly, Elevated hepatic transaminase, Recurrent bronchitis, Pneumonia, Emphysema, Bronchie...	ORPHA:1572
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Abnormal pons morphology, Microvesicular hepatic steatosis, Hepatomegaly, Flexio...	OMIM:300868
Adult Krabbe Disease	Abnormal pons morphology, Mental deterioration, Abnormal medulla oblongata morphology, Progressiv...	ORPHA:206448
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Facial edema, Thyroid hypoplasia, Umbilical hernia, ...	ORPHA:226307
Amoebiasis Due To Free-Living Amoebae	Abnormal pons morphology, Sinusitis, Abnormal hypothalamus morphology, Abnormal brainstem MRI sig...	ORPHA:68
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Decreased liver function, Hepatomegaly, Glycosuria, Increased hepatocellula...	OMIM:220110
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,...	ORPHA:95430
47,Xyy Syndrome	Increased serum testosterone level, Asthma, Cryptorchidism, Abnormal brainstem morphology, Increa...	ORPHA:8
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Sarcoidosis	Hepatomegaly, Hepatic failure, Abnormal pleura morphology, Enlarged lacrimal glands, Enlargement ...	ORPHA:797
Alg12-Cdg	Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoalbuminemia, Hyponatr...	ORPHA:79324
Digeorge Syndrome	Cholelithiasis, Decreased circulating parathyroid hormone level, Hydrocele testis, Hypocalcemia, ...	OMIM:188400
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Increased serum testosterone level, Type II diabetes mellitu...	ORPHA:3455
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Camptodactyly of finger, Enamel hypoplasia, Bicarbonaturia, Hyperc...	OMIM:309000
Sim1-Related Prader-Willi-Like Syndrome	Polyphagia	ORPHA:398079
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Dyspnea, Hepatic s...	ORPHA:391665
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Abnormal saliv...	OMIM:181000
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Inguinal hernia, Splenomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Polyphagia, Bulimia	ORPHA:98754
Alkuraya-Kucinskas Syndrome	Camptodactyly, Kinked brainstem, Edema, Arthrogryposis multiplex congenita, Pericardial effusion,...	OMIM:617822
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Polyphagia, Bulimia	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Polyphagia, Bulimia	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Polyphagia, Bulimia	ORPHA:177901
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Cognitive impairment, Respiratory failure, Paroxysmal dy...	ORPHA:444013
Cutis Laxa, Autosomal Recessive, Type Ic	Inguinal hernia, Tracheomalacia, Pulmonary hypoplasia, Umbilical hernia, Emphysema, Periorbital e...	OMIM:613177
Magel2-Related Prader-Willi-Like Syndrome	Polyphagia	ORPHA:398069
Weaver Syndrome	Polyphagia	OMIM:277590
Visceral Steatosis, Congenital	Hypoglycemia, Hypocalcemia, Hepatic steatosis, Jaundice	OMIM:228100
Prader-Willi-Like Syndrome	Polyphagia, Bulimia	ORPHA:398073
Meier-Gorlin Syndrome 4	Cryptorchidism, Breast hypoplasia, Emphysema	OMIM:613804
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Midline brainstem cleft, Hypoplasia of the pons, Agenesis of corpus callosum	OMIM:617542
Prader-Willi Syndrome	Polyphagia	OMIM:176270
7Q11.23 Microduplication Syndrome	Polyphagia	ORPHA:96121
Loeys-Dietz Syndrome 4	Pneumothorax, Inguinal hernia, Emphysema	OMIM:614816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin...	OMIM:615356
Prader-Willi Syndrome	Polyphagia	ORPHA:739
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal pons morphology, Elevated circulating creatine kinase concentration, Abnormal brainstem ...	ORPHA:370997
Acute Disseminated Encephalomyelitis	Viral hepatitis, Abnormal brainstem MRI signal intensity, Mental deterioration, Respiratory failu...	ORPHA:83597
Semilobar Holoprosencephaly	Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi...	ORPHA:220386
Alobar Holoprosencephaly	Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi...	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi...	ORPHA:93924
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Tracheobronchomalacia, Umbilical hernia, E...	OMIM:616835
Adnp Syndrome	Polyphagia, Oral-pharyngeal dysphagia	ORPHA:404448
Joubert Syndrome 1	Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Hepatic fibrosis, Neon...	OMIM:213300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Apnea, Cholestasis, Thyroid hypoplasia, Joint swelling, Flex...	OMIM:619503
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse, Peripheral pulmonary artery stenosis, Inguinal hernia, Emphysema, Bronchiectasi...	OMIM:123700
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Dehydration, Glycosuria, Hypoglycemia, D...	ORPHA:3337
Joubert Syndrome 2	Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Neonatal breathing dys...	OMIM:608091
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Inguinal hernia, Respiratory insufficiency, Hernia, Recurre...	ORPHA:90349
Pseudohypoparathyroidism Type 1C	Polyphagia	ORPHA:79444
Craniopharyngioma	Polyphagia	ORPHA:54595
Early-Onset Schizophrenia	Polyphagia	ORPHA:96369
Duplication Of The Pituitary Gland	Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Polyhydramnios, Abnormal mi...	ORPHA:314621
Neonatal Marfan Syndrome	Lipoatrophy, Flexion contracture, Hypoxemia, Decreased testicular size, Emphysema, Neonatal respi...	ORPHA:284979
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Cryptorchidism, Abnormal brainstem morphology, Posterior pituitary...	ORPHA:464311
Leprechaunism	Reduced subcutaneous adipose tissue, Failure to thrive, Postprandial hyperglycemia, Decreased bod...	ORPHA:508
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Developmental Delay, Impaired Speech, And Behavioral Abnormalities

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