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Gene: Prlh MGI:3644668

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

prolactin releasing hormone

Synonyms:

EG623503

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 Prlh 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 Prlh (0 diseases)
Human diseases predicted to be associated with Prlh (949 diseases)

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

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

Disease	Matching phenotypes	Source
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Abnormal autonomic nervous system physiology, Obesity, Attention de...	ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr...	ORPHA:71526
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia...	ORPHA:293964
Obesity And Hypopigmentation	Hyperinsulinemia, Overgrowth, Polyphagia, Obesity, Hepatic steatosis	OMIM:620195
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th...	ORPHA:324575
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypercholesterolemia, Hypocalcemia...	OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Maturity-onset diabetes of the young, Overweight	OMIM:613375
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa...	ORPHA:276580
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M...	OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Agitation, Diffuse pancreatic...	ORPHA:276575
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia, Polyphagia, Tall stature	OMIM:618406
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,...	ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	OMIM:608600
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-...	OMIM:613877
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Abnormality of the autono...	ORPHA:79299
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hypoglycemic seizures, Agitation, Hepatomegaly, Diffuse pancreatic isl...	ORPHA:276556
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	ORPHA:435660
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis, Lipodystrophy	OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature...	OMIM:614662
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro...	OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh...	ORPHA:276608
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Hyper...	ORPHA:363400
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo...	ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce...	OMIM:606762
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I...	OMIM:610947
Obesity	Obesity, Increased waist to hip ratio, Decreased resting energy expenditure	OMIM:601665
Lipodystrophy, Partial, Acquired, Susceptibility To	Progressive loss of facial adipose tissue, Abnormal circulating lipid concentration, Loss of trun...	OMIM:608709
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete...	ORPHA:436182
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H...	ORPHA:528
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Obesity, Hypogonadism	OMIM:614962
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Mody	Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Ab...	ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,...	OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper...	OMIM:151660
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper...	ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin...	OMIM:617872
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi...	OMIM:620357
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Elevated circulati...	ORPHA:263455
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Polyphagia, Hypogonadism	OMIM:617119
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc...	OMIM:608594
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia	OMIM:222100
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce...	ORPHA:35878
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L...	ORPHA:2457
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Temple Syndrome	Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T...	ORPHA:254516
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity	OMIM:615986
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube...	OMIM:616222
Riboflavin Transporter Deficiency	Diabetes insipidus, Abnormal cranial nerve morphology, Cachexia, Facial palsy, Abnormal autonomic...	ORPHA:97229
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hype...	ORPHA:79083
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Elevated circulating hepatic transamin...	OMIM:269700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Polyphagia, Hyperleucinemia, Increased...	OMIM:620085
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Syndromic X-Linked Intellectual Disability 7	Obesity, Sparse body hair, Hypogonadism	ORPHA:85274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis	OMIM:261650
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious...	OMIM:613670
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Ketotic hypoglycemia, Failure to thrive, Elevated circulating acylcarnitine concen...	ORPHA:26792
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu...	ORPHA:2348
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Gene...	ORPHA:79086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disor...	ORPHA:261229
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth...	ORPHA:226313
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism	OMIM:615987
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:619048
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow	OMIM:309585
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co...	OMIM:619386
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Impai...	OMIM:606069
Mantle Cell Lymphoma	Anorexia, Fever, Weight loss	ORPHA:52416
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
Mitchell Syndrome	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:618960
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity, Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation of hair	ORPHA:177910
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con...	OMIM:618400
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ...	OMIM:616329
Intellectual Developmental Disorder, X-Linked 97	Obesity, Synophrys	OMIM:300803
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ...	OMIM:613327
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Hypothermia, De...	ORPHA:95717
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618858
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Bardet-Biedl Syndrome 5	Obesity, Hypogonadism	OMIM:615983
11P15.4 Microduplication Syndrome	Highly arched eyebrow, Obesity, Synophrys, Aggressive behavior	ORPHA:300305
Perlman Syndrome	Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo...	ORPHA:2849
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem...	OMIM:246200
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate...	ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Obesity, Polyphagia, Aggressive behavior	OMIM:616521
Riboflavin Deficiency	Hypoglycemia, Hypothermia	OMIM:615026
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure...	OMIM:278000
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port...	OMIM:605814
Mehmo Syndrome	Obesity, Diabetes mellitus, Agitation	ORPHA:85282
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:606176
Rett Syndrome	Agitation, Increased serum pyruvate, Abnormal autonomic nervous system physiology, Stereotypical ...	ORPHA:778
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Inguinal hernia	OMIM:300209
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Joubert Syndrome 10	Hirsutism, Decreased body weight, Polyphagia, Frequent temper tantrums, Recurrent fever, Obesity	OMIM:300804
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis, Decreased HDL c...	ORPHA:280365
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi...	OMIM:615812
Mehmo Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma...	OMIM:300148
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Hernández-Aguirre Negrete Syndrome	Delayed puberty, Obesity	ORPHA:2139
Intellectual Developmental Disorder, X-Linked 91	Obesity, Low posterior hairline	OMIM:300577
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618857
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Increased ...	OMIM:182290
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology, Diabetes insipidus	OMIM:598500
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ...	ORPHA:69663
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	ORPHA:189427
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Attention deficit hy...	ORPHA:73272
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter	ORPHA:411515
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent...	OMIM:616829
Combined Oxidative Phosphorylation Deficiency 54	Obesity, Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Dietary Iron Overload Disease	Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal...	ORPHA:139507
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Congenital hypothyro...	ORPHA:95716
Morm Syndrome	Hyperactivity, Truncal obesity, Aggressive behavior	ORPHA:75858
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Familial Multiple Lipomatosis	Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance	ORPHA:199276
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le...	ORPHA:300373
Undifferentiated Pleomorphic Sarcoma	Anorexia, Fever, Weight loss	ORPHA:2023
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate...	OMIM:616516
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Sparse body hair, Truncal obesity, Hypogonadism	ORPHA:261483
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H...	ORPHA:79319
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:101046
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Epilepsy, Familial Focal, With Variable Foci 4	Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology	OMIM:617935
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran...	ORPHA:94086
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra...	ORPHA:71212
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he...	ORPHA:264580
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior	ORPHA:329284
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Decreased body w...	ORPHA:444490
Seckel Syndrome 10	Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin...	OMIM:617253
Bardet-Biedl Syndrome 2	Obesity, Diabetes mellitus, Hypogonadism	OMIM:615981
Huntington Disease	Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol...	ORPHA:399
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Schaaf-Yang Syndrome	Polyphagia, Camptodactyly, Impulsivity, Obesity, Skin-picking, Flexion contracture, Hypogonadism,...	OMIM:615547
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv...	ORPHA:300536
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Facia...	OMIM:606407
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Synophrys, Horizontal eyebrow, Congenital hypothyroidism, Obesity, Malignant hyperthermia	ORPHA:352530
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Obesity, Thick eyebrow, Polyphagia	ORPHA:171829
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, ...	OMIM:264470
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty...	ORPHA:3191
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity, Hirsutism, Alopecia	OMIM:604931
Short Syndrome	Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H...	OMIM:269880
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Fever, Repetitive compulsive behavio...	ORPHA:33543
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles...	OMIM:607616
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic...	OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,...	ORPHA:210548
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci...	ORPHA:101330
Laurence-Moon Syndrome	Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus	ORPHA:2377
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder	OMIM:620439
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Increased adipose tissue around...	OMIM:248370
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab...	ORPHA:631
Atypical Rett Syndrome	Agitation, Restrictive behavior, Tongue thrusting, Abnormal autonomic nervous system physiology, ...	ORPHA:3095
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Hypothermia	OMIM:245400
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Agitation, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Flexion contractu...	OMIM:613870
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Fever, Hyperglycemia, Weight loss, Hypoglycemia, Oral aversion	ORPHA:134
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Obesity, Overweight, Bulimia	OMIM:614651
Autoinflammatory-Pancytopenia Syndrome	Fever, Failure to thrive, Recurrent fever, Lipodystrophy, Type I diabetes mellitus	OMIM:619858
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogon...	ORPHA:2183
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase ...	OMIM:261680
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Aromatase Deficiency	Tall stature, Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II...	ORPHA:91
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t...	ORPHA:77296
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl...	OMIM:602579
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Breast hypoplasia, Abno...	ORPHA:785
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Immunodeficiency 61	Attention deficit hyperactivity disorder, Obesity	OMIM:300310
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He...	OMIM:619013
Hereditary Central Diabetes Insipidus	Polydipsia, Fever, Weight loss, Diabetes insipidus	ORPHA:30925
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Cholestasis, Polyphagia, Central hypo...	ORPHA:95427
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Orthostatic hypotension, Loss of subc...	OMIM:606721
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas...	ORPHA:79240
Bardet-Biedl Syndrome 16	Obesity, Hypogonadism	OMIM:615993
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hirsutism, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, J...	OMIM:175700
Cerebrooculofacioskeletal Syndrome 1	Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co...	OMIM:214150
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Increased pit...	ORPHA:90674
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Thick eyebrow, Compulsive behaviors	ORPHA:444002
Renal Glucosuria	Polydipsia, Glycosuria, Polyphagia	OMIM:233100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia	ORPHA:2089
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Thyroid hypoplasia, ...	ORPHA:226316
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Lipoma, Synophrys, Long eyelashes, Obesity, Thick eyebrow	ORPHA:480907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Biemond Syndrome Type 2	Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism	ORPHA:141333
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Attention deficit hyperactivity disorder, Obesity	OMIM:618725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Alstrom Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El...	OMIM:203800
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Polyp...	OMIM:300942
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se...	OMIM:614450
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity, Sparse body hair, Type II diabetes mellitus, Abnormality of the thyro...	ORPHA:2234
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen...	OMIM:603552
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis, Hypogonadism	OMIM:615996
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp...	OMIM:615830
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism	ORPHA:2233
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re...	OMIM:300888
Angelman Syndrome Due To A Point Mutation	Tongue thrusting, Hypopigmentation of hair, Recurrent hand flapping, Obesity, Inappropriate laugh...	ORPHA:411511
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G...	OMIM:615630
Infantile Neuroaxonal Dystrophy	Optic atrophy, Hyperactivity, Abnormal autonomic nervous system physiology, Impulsivity, Choking ...	ORPHA:35069
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ...	ORPHA:98855
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity...	ORPHA:90673
N-Acetylglutamate Synthase Deficiency	Anorexia, Failure to thrive, Hypothermia, Aggressive behavior	OMIM:237310
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Patent Ductus Venosus	Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis	OMIM:601466
Rafiq Syndrome	Broad eyebrow, Highly arched eyebrow, Long eyebrows, Sparse lateral eyebrow, Obesity, Sparse eyeb...	OMIM:614202
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Abnormality of temperature regulation, Hypothermia, Elbow flexion contracture, Fever, Obesity, Hi...	OMIM:618493
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Elev...	ORPHA:525731
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Chung-Jansen Syndrome	Impulsivity, Synophrys, Obesity, Thick eyebrow, Attention deficit hyperactivity disorder, Aggress...	OMIM:617991
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Hepatomegaly	ORPHA:2432
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypopigmentation of hair, In...	ORPHA:398069
Nephronophthisis 15	Obesity, Elevated circulating hepatic transaminase concentration	OMIM:614845
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism	OMIM:610628
Prader-Willi Syndrome	Delayed puberty, Self-injurious behavior, Decreased response to growth hormone stimulation test, ...	OMIM:176270
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Smal...	OMIM:300869
Rabson-Mendenhall Syndrome	Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Impaired gluco...	ORPHA:769
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Short Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc...	ORPHA:3163
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Autonomic erectile dysfunction, Abnormal autonomic nervous system physio...	ORPHA:227510
Bardet-Biedl Syndrome 4	Obesity, Hypogonadism	OMIM:615982
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ...	OMIM:603233
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr...	ORPHA:398079
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ...	ORPHA:96184
Meningococcal Meningitis	Anorexia, Increased circulating procalcitonin concentration, Hypothermia, Fever	ORPHA:33475
48,Xxyy Syndrome	Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,...	ORPHA:10
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat...	OMIM:617093
Fatal Familial Insomnia	Dysphagia, Weight loss, Abnormal autonomic nervous system physiology	OMIM:600072
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ...	ORPHA:98863
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Decreased sensory nerve conduction velocity, Elevated circulating hepatic transaminase...	ORPHA:298
Porphyria Variegata	Scarring, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Inap...	ORPHA:79473
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ...	ORPHA:98853
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal autonomic nervous system physiology, Weight loss, Orthostatic hypotension ...	ORPHA:330001
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Failure to thrive, Hepatic steatosis, Dysphagia	ORPHA:70472
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal autonomic nervous system ph...	ORPHA:85443
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Frontotemporal Dementia	Inappropriate laughter, Disinhibition, Polyphagia	OMIM:600274
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Congenital hypothyroidism, Obesity, Diabetes mellitus, Fair hair	OMIM:614613
Central Diabetes Insipidus	Polydipsia, Anorexia, Diabetes insipidus, Fever, Failure to thrive, Weight loss	ORPHA:178029
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Wolman Disease	Fever, Failure to thrive, Adrenal calcification	OMIM:620151
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Joint contracture, Abnormal autonomic nervous system physiology, Inguinal hernia	OMIM:614498
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys...	OMIM:243180
Smith-Magenis Syndrome	Delayed puberty, Hypertriglyceridemia, Hypothyroidism, Precocious puberty, Obesity, Motor stereot...	ORPHA:819
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Low posterior hairline, Synophrys, Thick eyebrow, Truncal obesity	ORPHA:2429
19P13.12 Microdeletion Syndrome	Hyperactivity, Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Self-injurious behavi...	ORPHA:254346
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Hepatic steatosis	ORPHA:96168
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Luscan-Lumish Syndrome	High anterior hairline, Hirsutism, Overgrowth, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Tetanus	Elevated circulating creatine kinase concentration, Dysphagia, Abnormal autonomic nervous system ...	ORPHA:3299
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Abnormal autonomic nervous system physiology	ORPHA:314652
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Obesity	OMIM:301900
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc...	OMIM:610475
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Stereotypical hand wringing, Hypothyroidism, Obesity, Skin-...	OMIM:600430
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Wilson-Turner Syndrome	Thick eyebrow, Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
Narcolepsy Type 1	Precocious puberty, Restless legs, Obesity, Restlessness, Attention deficit hyperactivity disorder	ORPHA:2073
Timothy Syndrome	Hypothyroidism, Hypoglycemia, Hypothermia	OMIM:601005
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology	OMIM:605543
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest...	ORPHA:633
Whipple Disease	Anorexia, Polydipsia, Hepatomegaly, Cachexia, Hypothyroidism, Hyponatremia, Splenomegaly, Insulin...	ORPHA:3452
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia...	ORPHA:83601
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann...	OMIM:617591
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Necrotizing Enterocolitis	Temperature instability, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Abnormal fear-induced behavior, Hyperactivity, Obesity, Aggressive behavior	ORPHA:3077
Bardet-Biedl Syndrome 8	Obesity, Hypogonadism	OMIM:615985
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Increased blood urea nitrogen, Ob...	ORPHA:251004
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adeno...	OMIM:219090
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia...	OMIM:614300
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Microtriplication 11Q24.1	Obesity, Bruxism, Hyperlipidemia	ORPHA:289522
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog...	OMIM:609069
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Pituitary h...	ORPHA:54595
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypothermia, Hypoketotic hypoglycemia, Obesity, Overweight, Small for gestational age	ORPHA:26793
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Agitation, Synophrys, Self-injurious behavior, Aggressive behavior	OMIM:616116
Man1B1-Cdg	Abnormal position of hair whorl, Long eyebrows, Polyphagia, Long eyelashes, Sparse eyebrow, Trunc...	ORPHA:397941
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Polyphagia, Synophrys, Generalized hirsutism, Motor stereot...	ORPHA:228402
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hepatic fi...	OMIM:232400
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Recurrent hand flapping, Synophrys, Bruxism, Truncal obesity	OMIM:613192
Trisomy 5P	Obesity	ORPHA:1742
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio...	ORPHA:2959
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ...	OMIM:267700
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Wolfram Syndrome	Delayed puberty, Polydipsia, Optic atrophy, Male hypogonadism, Diabetes insipidus, Abnormal auton...	ORPHA:3463
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autonomic nervo...	ORPHA:441
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir...	OMIM:605911
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:614582
Werner Syndrome	Lipoatrophy, Thyroid carcinoma, Slender build, Lipodystrophy, Hypogonadism, Type II diabetes mell...	ORPHA:902
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Insuli...	OMIM:209900
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Hypoglycemia, Hyperglycemia	OMIM:615453
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Multiple System Atrophy	Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypoten...	ORPHA:102
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ...	OMIM:619418
Multicentric Reticulohistiocytosis	Fever, Cachexia	ORPHA:139436
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	ORPHA:99901
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Tongue thrusting, Hypopigmentation of hair, Hyperactivity, Recurrent hand flapping, Obesity, Inap...	ORPHA:98794
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism, Optic disc pallor	ORPHA:791
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Alexander Disease	Facial palsy, Abnormal autonomic nervous system physiology, Hypothyroidism, Failure to thrive, Pr...	ORPHA:58
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed puberty, Optic atrophy, Dysphagia, Hypogonadotropic hypogonadism, Autonomic bladder dysfu...	ORPHA:447896
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Pseudopseudohypoparathyroidism	Pseudohypoparathyroidism, Enamel hypoplasia, Obesity	OMIM:612463
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Insulin-Like Growth Factor I, Resistance To	Agitation, Highly arched eyebrow, Decreased body weight, Sparse scalp hair, Synophrys, Reduced su...	OMIM:270450
Multiple System Atrophy, Parkinsonian Type	Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypoten...	ORPHA:98933
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Self-mutilation, P...	OMIM:256800
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Overfriendliness, Aggressive behavior	OMIM:618010
Foxp1 Syndrome	Hypothyroidism, Failure to thrive, Overweight, Flexion contracture, Repetitive compulsive behavio...	ORPHA:391372
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n...	OMIM:231550
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Insulin resistance, Di...	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hepatic steatosis, Hyperalaninemia	OMIM:615918
Symptomatic Form Of Hfe-Related Hemochromatosis	Testicular atrophy, Hypothyroidism, Hyperglycemia, Weight loss, Diabetes mellitus, Hypogonadotrop...	ORPHA:465508
Angelman Syndrome	Optic atrophy, Precocious puberty in females, Tongue thrusting, Hyperactivity, Delayed menarche, ...	ORPHA:72
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Abnormal autonomic nervous system physiology	ORPHA:163921
Bardet-Biedl Syndrome 21	Obesity, Overweight, Elevated circulating hepatic transaminase concentration	OMIM:617406
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Fever, Recurrent fever, Adrenogenital syndrome, Hypoglycemia, Elevated circu...	OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia	Agitation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hy...	OMIM:219080
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi...	OMIM:261750
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus	OMIM:605231
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul...	OMIM:201475
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio...	OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance	ORPHA:90154
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Intellectual Developmental Disorder With Autism And Macrocephaly	Tall stature, Overweight, Recurrent hand flapping, Pica	OMIM:615032
Alexander Disease Type Ii	Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:363722
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity	ORPHA:2928
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Diabetes mellitu...	ORPHA:90041
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality...	ORPHA:1414
Haddad Syndrome	Failure to thrive, Aganglionic megacolon, Small for gestational age, Abnormal autonomic nervous s...	ORPHA:99803
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Agitation, Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology	OMIM:617903
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea...	ORPHA:209919
Cebalid Syndrome	Congenital diaphragmatic hernia, Polyphagia	OMIM:618774
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Orthostatic hypotension due to aut...	OMIM:169500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Silver-Russell Syndrome	Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr...	ORPHA:813
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly	OMIM:620603
Retinal Dystrophy And Obesity	Obesity, Peripapillary atrophy	OMIM:616188
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated circulating creatinine concentration, Orthostatic hypotension, Increas...	ORPHA:230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Obesity, Hip contracture, Truncal ob...	OMIM:618363
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Optic nerve hypoplasia, Anterior pituitary hyp...	ORPHA:3157
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Splenomegaly	OMIM:620282
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma...	ORPHA:369840
Dpm1-Cdg	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated ci...	ORPHA:79322
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Baralle-Macken Syndrome	Obesity, Hirsutism	OMIM:619255
Distal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Aganglionic megacolon, Hyperuricemia	ORPHA:261222
Menkes Disease	Alopecia, Hypothermia, Sparse hair, Brittle hair	OMIM:309400
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Hypothermia, Nonketotic hypoglycemia, Fever, Weight loss, Recurrent hypoglycemia	ORPHA:20
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe...	OMIM:618160
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	ORPHA:158057
Reni Syndrome	Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrenal insuff...	OMIM:617575
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology, Aggressive behavior	OMIM:300894
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Stereotypical hand wringing, Precocious pu...	ORPHA:163681
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia	OMIM:210200
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Wrist flexion contracture, Obesity, Flexion contracture, Restlessness, Bruxism	OMIM:300055
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Self-m...	ORPHA:412035
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia, Hypothermia	OMIM:618329
Werner Syndrome	Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog...	OMIM:277700
Senior-Loken Syndrome 9	Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism	OMIM:616629
Atypical Werner Syndrome	Delayed puberty, Premature graying of hair, Lipoatrophy, White forelock, Hypogonadism, Fasting hy...	ORPHA:79474
Gitelman Syndrome	Delayed puberty, Polydipsia, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Hypoka...	ORPHA:358
Leprechaunism	Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increas...	ORPHA:508
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Multiple joint contractures, Abnormal autonomic nervous system physiology	ORPHA:466934
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis, Splenomegaly	OMIM:618398
Inflammatory Pseudotumor Of The Liver	Fever, Diabetes mellitus, Weight loss	ORPHA:90003
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Hi...	ORPHA:247768
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Postprandial hyperglycemia	ORPHA:681
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv...	OMIM:616263
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Wagro Syndrome	Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior	OMIM:612469
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity, Umbilical hernia	ORPHA:1035
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Glycosuria, Failure to thrive, Reduced pancreatic beta cells, Hyper...	ORPHA:99885
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio...	OMIM:614921
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep...	OMIM:231530
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Hypertriglyceridemia, Jaundice, Elevated circulating hepat...	ORPHA:275761
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Flexion contracture, Abnormal autonomic nervous system physiology	OMIM:616683
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol...	ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	OMIM:603553
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Abnormal circulating acylcarnitine concentration, Aggressive behavior	OMIM:620191
H Syndrome	Delayed puberty, Hypertriglyceridemia, Camptodactyly, Diabetes mellitus, Hepatosplenomegaly, Lipo...	ORPHA:168569
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Obes...	OMIM:103580
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:616026
Machado-Joseph Disease	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:109150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:608836
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Long eyelashes, Tall stature	OMIM:618089
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79444
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Cole Disease	Hyperglycemia, Abnormal hair morphology	OMIM:615522
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating...	ORPHA:2235
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Tall stature, Hyperactivity, Compulsive behaviors, Obesity, Motor stereotypy, Aggressive behavior	OMIM:618430
Radio-Tartaglia Syndrome	High anterior hairline, Highly arched eyebrow, Hirsutism, Long eyebrows, Impulsivity, Long eyelas...	OMIM:619312
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Truncal obesity, Flexion contracture of digit, Reduced subcutaneous adipose tiss...	ORPHA:3041
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypothermia, Hypoketotic hypoglycemia	ORPHA:159
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Xanth...	ORPHA:79259
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele...	OMIM:212138
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, Th...	OMIM:218700
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Hypothermia, Small for gestational age	OMIM:618775
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Obesity	OMIM:300238
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	ORPHA:470
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Aicardi-Goutieres Syndrome 9	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancr...	OMIM:619487
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hypothyroidism, Hyperglycemia, Addictive alcohol use	ORPHA:90065
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, High ante...	ORPHA:94065
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas...	ORPHA:541423
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hypogonadism	OMIM:601794
Perrault Syndrome 4	Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre...	OMIM:615300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Hypogonadism	ORPHA:363741
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas...	ORPHA:348
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Abnormality of temperature regulation, Heat intolerance	ORPHA:2926
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase co...	OMIM:610198
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, High anterior hairline, Sparse hair, Umbilical hernia, Attention...	ORPHA:284180
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro...	ORPHA:158061
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Hirsutism, Long eyelashes, Synophrys, Low anterior hairline, Hypogonadism,...	OMIM:300882
48,Xxxy Syndrome	Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes melli...	ORPHA:96263
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Synophrys	ORPHA:589905
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Puberty and gonadal disorders	ORPHA:464282
Neuroleptic Malignant Syndrome	Hyperkalemia, Agitation, Elevated circulating hepatic transaminase concentration, Hyperuricemia, ...	ORPHA:94093
Young-Onset Parkinson Disease	Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:2828
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Reduced subcutaneous adipose tissue, Glycosuria, Failure to thrive, Postpra...	OMIM:227810
Tatton-Brown-Rahman Syndrome	Obesity, Proportionate tall stature, Thick eyebrow, Umbilical hernia, Neuroendocrine neoplasm, Ag...	ORPHA:404443
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Abnormal autonomic nervous system physiology, Impulsivity, F...	ORPHA:2131
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism	ORPHA:3409
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Sheehan Syndrome	Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,...	ORPHA:91355
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Ramos-Arroyo Syndrome	Aganglionic megacolon, Severe failure to thrive, Decreased body weight, Abnormal autonomic nervou...	ORPHA:1051
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Umbilical hernia	ORPHA:171839
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Pfapa Syndrome	Abnormality of temperature regulation, Weight loss	ORPHA:42642
Trisomy 18P	Attention deficit hyperactivity disorder, Facial palsy, Polyphagia	ORPHA:1715
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H...	OMIM:256040
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ...	ORPHA:96182
Methanol Poisoning	Type I diabetes mellitus, Addictive alcohol use, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Choreoacanthocytosis	Self-injurious behavior, Hepatomegaly, Socially inappropriate behavior, Hair-pulling, Hyperactivi...	ORPHA:2388
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Sepsis In Premature Infants	Hypothermia, Decreased body weight, Temperature instability, Fever, Small for gestational age	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he...	OMIM:212065
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hyperactivity, Hypogonadism, Abdominal obesity, Aggressive behavior	OMIM:300354
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Solitary Fibrous Tumor	Hypoinsulinemia, Fever, Weight loss, Recurrent hypoglycemia, Hypoglycemia	ORPHA:2126
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity, Achilles tendon contracture, Hyperalaninemia, Elevated circulating creatine kinase conce...	OMIM:615418
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Mi...	ORPHA:66634
X-Linked Intellectual Disability, Stevenson Type	Obesity, Thick eyebrow, Tall stature	ORPHA:85325
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal circulating thyro...	ORPHA:99832
Carpenter Syndrome	Obesity, Polysplenia, Umbilical hernia	ORPHA:65759
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Recurrent hand flapping, Compulsive behaviors, Failure to thr...	ORPHA:3008
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal...	OMIM:301039
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increased circulating...	ORPHA:556037
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Chromosome 3Q29 Duplication Syndrome	Obesity, Low posterior hairline	OMIM:611936
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Dysphagia, Splenomegaly, Hy...	ORPHA:699
Wagr Syndrome	Obesity	ORPHA:893
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79443
Trisomy 20P	Inguinal hernia, Abnormal autonomic nervous system physiology, Camptodactyly of finger, Umbilical...	ORPHA:261318
Wilson Disease	Portal fibrosis, Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound seru...	OMIM:277900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypothermia, Failure to thrive, Flexion contracture, Hypoglycemia, Aggressive behavior	ORPHA:17
Idiopathic Intracranial Hypertension	Obesity, Papilledema	ORPHA:238624
Idiopathic Neonatal Atrial Flutter	Large for gestational age, Maternal diabetes	ORPHA:45452
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Elevated circulati...	OMIM:231680
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Orthostatic Hypotension 1	Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration	OMIM:223360
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Increased body weight, Hirsutism, Low posterior hairline, Synophrys, Self-injurio...	OMIM:300860
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Motor stereotypy	ORPHA:300570
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia, Obesity, Long eyelashes, Broad lateral eyebrow	OMIM:608624
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
White-Sutton Syndrome	Congenital diaphragmatic hernia, Hypoglycemic seizures, Hyperactivity, Optic nerve hypoplasia, Ti...	OMIM:616364
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr...	ORPHA:98907
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transamina...	ORPHA:93111
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir...	ORPHA:540
Laurence-Moon Syndrome	Obesity	OMIM:245800
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Compulsive behaviors, Sparse scalp hair, ...	ORPHA:1001
Tick-Borne Encephalitis	Anorexia, Elevated circulating hepatic transaminase concentration, Abnormal glossopharyngeal nerv...	ORPHA:297
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia, Class III obesity	OMIM:616418
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hypertrichosis, Failure to thrive, Obesity, Abnormality of the hairline	OMIM:610543
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc...	ORPHA:228308
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology, Hypokalemia	ORPHA:101016
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system	ORPHA:464288
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Cachexia, Synophrys, Camptodactyly of finger, Obesity, Abnormal h...	ORPHA:85293
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Increased circulating NT-proBNP concentration, Abnorm...	ORPHA:85451
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Failure to thrive, Bruxism, Abnormal autonomic nervous system physiology	ORPHA:453499
Isolated Sedoheptulokinase Deficiency	Flexion contracture, Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Inguinal hernia	ORPHA:440713
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero...	OMIM:300972
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:247234
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Bloom Syndrome	Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio...	ORPHA:125
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Fabry Disease	Delayed puberty, Elevated circulating globotriaosylceramide concentration, Abnormal autonomic ner...	OMIM:301500
Menkes Disease	Hypothermia, Inguinal hernia, Hypopigmentation of hair, Woolly hair, Sparse hair, Umbilical herni...	ORPHA:565
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Long eyelashes, Synophrys, Obesity, Fine hair, Aggressive behavior	OMIM:620250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Cholestasis, Chronic hepatic failure,...	ORPHA:746
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Parkinson Disease, Late-Onset	Dysphagia, Abnormal autonomic nervous system physiology	OMIM:168600
Multiple Mitochondrial Dysfunctions Syndrome 7	Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Hypoglycemia	OMIM:620423
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Decreased body weight, Dysphagia	ORPHA:589821
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration, Cranial nerve compression	ORPHA:52430
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Ulnar-Mammary Syndrome	Delayed puberty, Abnormality of temperature regulation, Breast aplasia, Hypoplastic nipples, Hern...	ORPHA:3138
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Panniculitis, Weight loss	ORPHA:86884
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Optic atrophy, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hep...	ORPHA:436271
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Decreased liver function, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Abnorma...	ORPHA:77293
Fragile X-Associated Tremor/Ataxia Syndrome	Hypothyroidism, Compulsive behaviors, Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:93256
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly	OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Motor stereotypy, ...	OMIM:301066
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Elbow flexion contracture, Abnormal autonomic nervous system physiolo...	OMIM:601559
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Overgrowth, Inguinal hernia, Umbilical hernia	OMIM:618272
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, I...	ORPHA:110
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly, Optic disc pallor	OMIM:612291
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Hypogly...	OMIM:307030
Adiposis Dolorosa	Hypothyroidism, Obesity, Sparse pubic hair, Sparse axillary hair	ORPHA:36397
Joubert Syndrome 37	Obesity, Hepatomegaly	OMIM:619185
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Widened atrophic scar, Umbilical hernia, C...	ORPHA:536532
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism	OMIM:619273
Congenital Enterovirus Infection	Fever, Hypothermia	ORPHA:292
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing...	OMIM:613658
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Hypogonadism	OMIM:615994
Adnp Syndrome	Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Inguinal hernia, Hir...	ORPHA:404448
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Recurrent hand flapping, Polyphagia, Low posterior hairline, Long eyelashe...	OMIM:156200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplastic spleen, Hypoplasi...	OMIM:619313
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyc...	ORPHA:404454
Osteootohepatoenteric Syndrome	Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste...	OMIM:619377
Parkinsonian-Pyramidal Syndrome	Dysphagia, Abnormal autonomic nervous system physiology	ORPHA:171695
Congenital Myopathy 9A	Obesity	OMIM:618822
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli...	ORPHA:3464
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Abnormal optic disc ...	ORPHA:96121
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality	OMIM:607485
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent...	OMIM:611126
Megalencephaly	Truncal obesity	ORPHA:2477
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Attention deficit hyperactivity disorder, Hypoglyc...	OMIM:619075
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Generalized lipodystrophy, Elevated circulating hepatic transaminase concen...	OMIM:619127
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Failure to thrive, Hypothermia, Dysphagia	ORPHA:255210
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,...	OMIM:277460
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Failure to thrive, Obesity, Motor stereotypy, Attention deficit ...	ORPHA:261197
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De...	ORPHA:14
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Hypothermia, Hirsutism, Synophrys, Hypothy...	ORPHA:488632
Periodic Fever, Menstrual Cycle-Dependent	Fever, Increased circulating cortisol level	OMIM:614674
Marbach-Schaaf Neurodevelopmental Syndrome	Attention deficit hyperactivity disorder, Obesity, Recurrent hand flapping, Aggressive behavior	OMIM:619680
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:99226
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep...	ORPHA:881
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Thick eyebrow, Hypogonadism, Sparse hair, Truncal obesity	ORPHA:127
Shox-Related Short Stature	Obesity	ORPHA:314795
Cushing Disease	Optic nerve compression, Increased body weight, Increased urinary cortisol level, Impaired glucos...	ORPHA:96253
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Facial hirsutism, Thick hair, Highly arche...	ORPHA:444077
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina...	ORPHA:445038
White-Sutton Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Ventral hernia, Inguinal hernia, Hyperactivity, C...	ORPHA:468678
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Intellectual Developmental Disorder, X-Linked 12	Truncal obesity, Small for gestational age, Increased body mass index	OMIM:300957
Steinert Myotonic Dystrophy	Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H...	ORPHA:273
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Nail dystrophy, Decreased serum leptin, Sparse scalp hair, Sparse eyelashes, Failure...	OMIM:614008
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	ORPHA:156
Mitchell-Riley Syndrome	Diabetes mellitus, Hyperglycemia	OMIM:615710
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Agitation, Decreased body weight, Stereotypical hand wringing, Enamel hy...	OMIM:619229
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ...	OMIM:600001
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Carpenter Syndrome 1	Optic atrophy, Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical hernia, Polyspl...	OMIM:201000
Weaver Syndrome	Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of th...	OMIM:277590
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Fliedner-Zweier Syndrome	Self-injurious behavior, Obesity, Aggressive behavior	OMIM:620511
Melkersson-Rosenthal Syndrome	Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Hepatomegaly, Compulsive behaviors	OMIM:618443
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Optic atrophy, Hepatomegaly, Glycosuria, Failure to thrive, Increased i...	OMIM:220110
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi...	ORPHA:261476
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy...	OMIM:619991
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Tongue thrusting, Abnormality of the pineal gland, Compulsive behaviors, Failure to thrive, Obesi...	ORPHA:369950
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi...	OMIM:618183
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Nodular Non-Suppurative Panniculitis	Fever, Panniculitis, Weight loss	ORPHA:33577
Distal Deletion 12Q	Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Biliary atres...	ORPHA:96149
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona...	ORPHA:99889
Dend Syndrome	Hyperglycemia	ORPHA:79134
Nmda Receptor Encephalitis	Orthostatic tachycardia, Agitation, Orthostatic hypotension, Abnormal sudomotor regulation, Neopl...	ORPHA:217253
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hypoglycemia, Hypothermia	ORPHA:79282
Sotos Syndrome	Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi...	OMIM:117550
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th...	OMIM:614098
Kleefstra Syndrome	Highly arched eyebrow, Synophrys, Obesity, Motor stereotypy, Self-injurious behavior, Hernia, Sup...	ORPHA:261494
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture	OMIM:616271
Hereditary Sensory And Autonomic Neuropathy Type 4	Hypothermia, Nail-biting, Hyperactivity, Corneal scarring, Impulsivity, Unexplained fevers, Recur...	ORPHA:642
Ring Chromosome Y Syndrome	Obesity, Streak ovary, Male hypogonadism	ORPHA:261529
Kleefstra Syndrome 1	Compulsive behaviors, Synophrys, Obesity, Motor stereotypy, Aggressive behavior	OMIM:610253
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Spinal Cord Injury	Hypercalcemia, Abnormal autonomic nervous system physiology	ORPHA:90058
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity, Streak ovary	OMIM:194072
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Fever, Decreased ci...	ORPHA:90790
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age	ORPHA:254534
1P36 Deletion Syndrome	Optic atrophy, Annular pancreas, Polyphagia, Hypothyroidism, Camptodactyly of finger, Obesity, Fa...	ORPHA:1606
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei...	OMIM:619573
Angelman Syndrome	Hyperactivity, Fair hair, Obesity, Paroxysmal bursts of laughter	OMIM:105830
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Hyperactivity, Facial palsy, Polyphagia, C...	OMIM:615873
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d...	OMIM:620185
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Aromatic L-Amino Acid Decarboxylase Deficiency	Intermittent hypothermia, Temperature instability, Tongue thrusting	OMIM:608643
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Papilledema, Male...	OMIM:619471
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta	OMIM:619269
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hypoplasia, Flexion contracture, Ab...	OMIM:619321
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty, Obesity, Hypercalcemia	ORPHA:369837
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ...	OMIM:260370
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Bloom Syndrome	Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis, Small for gestational age	OMIM:210900
Peripartum Cardiomyopathy	Obesity, Diabetes mellitus, Abnormality of thyroid physiology	ORPHA:563
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Polyphagia, Sparse hair, Restlessness, Fine hair, Self-mutilation, Aggressive behavior	ORPHA:251028
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Highly arched eyebrow, Hirsutism, Failure to thrive, Hyperglycemia, Dysphagia, L...	OMIM:220111
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia, Small for gestational age	OMIM:256300
Occipital Horn Syndrome	Coarse hair, Scarring, Hypothermia, Inguinal hernia, Thick hair, Femoral hernia, Dysphagia, Atypi...	ORPHA:198
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Weight loss, Attention deficit hyperactivity disorder	ORPHA:251071
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Jaundice, Elevated circulating hepatic transaminase concentration, Obesity, Hypogo...	OMIM:614231
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Highly arched eyebrow, Femoral hernia, Synophrys, Failure to thrive, Obesity	ORPHA:96147
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Obesity, Overweight, Dysphagia	ORPHA:2822
1P21.3 Microdeletion Syndrome	Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior	ORPHA:293948
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc...	OMIM:118450
Spinocerebellar Ataxia Type 3	Abnormality of temperature regulation	ORPHA:98757
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ...	OMIM:619525
Scorpion Envenomation	Fever, Glycosuria, Hyperglycemia, Restlessness	ORPHA:466677
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitary hypothyroidi...	OMIM:615926
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Truncal obesity, Alopecia	ORPHA:3224
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Rabin-Pappas Syndrome	Optic nerve hypoplasia, Overgrowth, Hyponatremia, Obesity, Failure to thrive in infancy	OMIM:620155
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Optic a...	ORPHA:3455
Momo Syndrome	Large for gestational age, Obesity, Overgrowth, Tall stature	ORPHA:2563
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH...	ORPHA:2495
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Abcd Syndrome	Total intestinal aganglionosis, Large for gestational age, Aganglionic megacolon, Abnormal audito...	OMIM:600501
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv...	OMIM:619475
Down Syndrome	Delayed puberty, Aganglionic megacolon, Obesity, Type II diabetes mellitus, Hyperthyroidism, Umbi...	ORPHA:870
Ethylene Glycol Poisoning	Addictive alcohol use, Hypothermia	ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Hirsutism, Frequent temper tantrums, Synophrys, Obesity, Attention deficit hyperac...	OMIM:616078
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Hirsutism, Synophrys, Obesity, Thick eyebrow, Dysphagia, Attention deficit hyperactivity disorder...	ORPHA:466950
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Hepatic steatosis	OMIM:614922
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232200
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Anterior hypopituitarism, Obesity, Hypogonadotropic hypogonad...	ORPHA:478
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly, Flexion contracture,...	OMIM:617303
Cohen Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o...	OMIM:216550
Joubert Syndrome 35	Highly arched eyebrow, Abnormality of temperature regulation, Synophrys	OMIM:618161
Deeah Syndrome	Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Abnormality of temp...	OMIM:619004
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina...	ORPHA:167
Cohen Syndrome	Delayed puberty, Thick hair, Abnormal eyelash morphology, Long eyelashes, Obesity, Low anterior h...	ORPHA:193
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Inguinal hernia, Obesity, Sparse eyebrow, Umbilical hernia, Reduced circulating growth hormone co...	OMIM:620654
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Decreased response to growth hormone stimulation test, Hypopigmentation...	ORPHA:177907
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Acute Transverse Myelitis	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Decreased circulating copp...	ORPHA:139417
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, ...	ORPHA:116
Momo Syndrome	Obesity, Overgrowth	OMIM:157980
Stüve-Wiedemann Syndrome	Elbow flexion contracture, Abnormal autonomic nervous system physiology, Hypothyroidism, Camptoda...	ORPHA:3206
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Obesity	OMIM:617296
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi...	OMIM:300868
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc...	ORPHA:157
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Hypertriglyceridemia, Increased serum testosterone level, Hypoplasia of the thymus, ...	OMIM:264090
Digeorge Syndrome	Inguinal hernia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr...	OMIM:188400
Marburg Hemorrhagic Fever	Anorexia, Hypothermia, Fever, Hypoglycemia, Aggressive behavior	ORPHA:99826
Beta-Thalassemia	Abnormality of temperature regulation, Hypogonadotropic hypogonadism	ORPHA:848
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	ORPHA:158048
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Leprosy	Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Abnormal autonomic nervou...	ORPHA:548
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus	OMIM:210720
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Sarcoidosis	Scarring, Abnormality of the adrenal glands, Hypothermia, Diabetes insipidus, Hypothyroidism, Fev...	ORPHA:797
Chops Syndrome	Thick hair, Synophrys, Long eyelashes, Curly hair, Obesity, Thick eyebrow, Coarse hair	OMIM:616368
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232220
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Obesity, Optic disc pallor, Inguinal hernia	OMIM:614947
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly	ORPHA:79477
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:209880
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Hypothermia, Abnormality of the endocrine system, Stereotypical hand wrin...	ORPHA:438213
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Highly arched eyebrow, Trichorrhexis nodosa, Abnormality of temperature regulation	OMIM:619173
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela...	ORPHA:740
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Aganglionic megacolon, Hyperactivity, Precoci...	OMIM:270400
Bardet-Biedl Syndrome 12	Obesity, Hypogonadism	OMIM:615989
Diamond-Blackfan Anemia 21	Synophrys, Horizontal eyebrow, Obesity, Coarse hair, Widow's peak	OMIM:620072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Hypocalcemia, Optic nerve hypoplasia, Polyphagia, Fixated interests, M...	OMIM:620330
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Achondroplasia	Obesity	ORPHA:15
Cockayne Syndrome Type 1	Scarring, Abnormality of temperature regulation, Foot joint contracture, Enamel hypoplasia, Failu...	ORPHA:90321
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder, ...	ORPHA:2637
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Increased circulating ferriti...	OMIM:615846
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Polyphagia, Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyl...	OMIM:607872
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Xylt1-Cdg	Hepatomegaly, Truncal obesity	ORPHA:370930
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Thyroid hypoplasia, Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic ...	OMIM:619503
White-Kernohan Syndrome	Long eyelashes, Hypothyroidism, Horizontal eyebrow, Obesity, Synophrys, Thick eyebrow, Attention ...	OMIM:619426
Arima Syndrome	Polydipsia, Optic atrophy, Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity	ORPHA:319675
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Synophrys, Obesity, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior,...	ORPHA:466943
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Highly arched eyebrow, Obesity, Motor stereotypy, Supernumerary nipple	OMIM:618653
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia, Facial diplegia, Hepatosplenomegaly	ORPHA:31150
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis	OMIM:616260
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Flexion contracture, Micronodular cirrhosis, ...	OMIM:301072
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Elevated circulating thyroid-stimulating hormone c...	ORPHA:79318
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia	ORPHA:439232
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Ogden Syndrome	Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Microvesicular he...	OMIM:300855
Retinitis Pigmentosa 74	Obesity, Optic disc pallor	OMIM:616562
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Machado-Joseph Disease Type 1	Abnormality of temperature regulation, Dysphagia	ORPHA:276238
Machado-Joseph Disease Type 2	Abnormality of temperature regulation, Dysphagia	ORPHA:276241
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevate...	OMIM:615356
22Q11.2 Deletion Syndrome	Optic atrophy, Aganglionic megacolon, Hypoparathyroidism, Inguinal hernia, Cholelithiasis, Hypoca...	ORPHA:567
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, S...	ORPHA:565612
Intellectual Developmental Disorder, Autosomal Dominant 68	Attention deficit hyperactivity disorder, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly, Hypolysinemia, Incre...	OMIM:222700
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia, Failure to thrive, Small for ges...	ORPHA:1830
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv...	OMIM:618278
Carney Complex	Thyroid carcinoma, Neoplasm of the pancreas, Increased circulating insulin-like growth factor 1 c...	ORPHA:1359
Machado-Joseph Disease Type 3	Abnormality of temperature regulation, Dysphagia	ORPHA:276244
Kabuki Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Long eyelashes, Precocious puberty, Failu...	ORPHA:2322
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell h...	OMIM:267000
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Long eyelashes, Obesity, Thick eyebrow, Umbilical hernia, Bruxism	ORPHA:48652
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular c...	OMIM:232240
17Q24.2 Microdeletion Syndrome	Synophrys, Thick eyebrow, Failure to thrive in infancy, Truncal obesity, Pineal cyst, Aggressive ...	ORPHA:529962
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic...	OMIM:241080
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Inguinal hernia, Genital hernia, Abnormal autonomic nervous ...	ORPHA:285
Xq21 Microdeletion Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, P...	ORPHA:1435
Primrose Syndrome	Delayed puberty, Glucose intolerance, Tics, Hypergonadotropic hypogonadism, Hypothyroidism, Hip c...	OMIM:259050
Desbuquois Dysplasia 2	Truncal obesity, Synophrys	OMIM:615777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Failure to thri...	ORPHA:353281
Williams-Beuren Syndrome	Obsessive-compulsive trait, Glucose intolerance, Inguinal hernia, Portal hypertension, Hypothyroi...	OMIM:194050
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Low posterior hairline, Hypothyroidism, Obesity, Increased circulating gonadotro...	ORPHA:1772
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Abnormality of temperature regulation	ORPHA:1334
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion...	OMIM:181450
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ...	OMIM:613406
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Hyperactivity, Self-mutilation, Facial hypertrichosis, Hirsutism, Keloids, Highly ...	OMIM:180849
Myhre Syndrome	Camptodactyly, Obesity, Thick eyebrow, Sparse hair, Fine hair, Small for gestational age	OMIM:139210
Williams Syndrome	Abnormal circulating lipid concentration, Inguinal hernia, Cholelithiasis, Abnormal dental enamel...	ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Trichiasis, Abnormal fear-induced behavior, Hyperactivity, Highly arched eyebrow, Compulsive beha...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Trichiasis, Abnormal fear-induced behavior, Hyperactivity, Highly arched eyebrow, Compulsive beha...	ORPHA:353277
Tako-Tsubo Cardiomyopathy	Mildly elevated creatine kinase, Obesity, Abnormal circulating B-type natriuretic peptide concent...	ORPHA:66529
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Failure to thrive, Obesity, Low anterior hairline	ORPHA:75857
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Pseudohypoparathyroidism, Failure to thrive, Obesity, Frontal hirsutism, Sparse hair	OMIM:617157
Cornelia De Lange Syndrome	Delayed puberty, Congenital diaphragmatic hernia, Curly eyelashes, Highly arched eyebrow, Hypopla...	ORPHA:199
Carpenter Syndrome 2	Knee flexion contracture, Highly arched eyebrow, Hypoplastic nipples, Camptodactyly, Obesity, Spa...	OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Increased HDL cholesterol concentration, Elevated circulating C-reactive protein concent...	ORPHA:70591
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of temperature regulation, Inguinal hernia, Abnormal hair morphology, Abnormal dental...	ORPHA:2273
Hellp Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:244242
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Long lower eyelashes, Highly arched eyebrow, Camptodactyly, Synophrys, Failure t...	OMIM:612474
Fabry Disease	Delayed puberty, Abnormal circulating lipid concentration, Anorexia, Optic atrophy, Diabetes insi...	ORPHA:324
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Optic atrophy, Hyperactivity, Obesity, Hypogonadism, Paroxysmal bursts of laughter	OMIM:309580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hepatic steatosis, Hyp...	ORPHA:391665
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia, Peritonitis	ORPHA:2968
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Inguinal hernia, Sparse anteri...	OMIM:601803
Autosomal Recessive Malignant Osteopetrosis	Abnormality of temperature regulation, Abnormality of hair texture	ORPHA:667

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 Prlh

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 Prlh.

No publications found that use IMPC mice or data for Prlh.

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MGI Allele	Allele Type	Produced
Prlh^{tm411743(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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