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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 (933 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, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att...	ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod...	OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsul...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi...	ORPHA:276575
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl...	ORPHA:276556
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop...	ORPHA:528
Leptin Deficiency Or Dysfunction	Polyphagia, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age	ORPHA:356996
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Decreased HDL cho...	OMIM:151660
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Bardet-Biedl Syndrome 22	Obesity, Hypogonadism, Polyphagia, Large for gestational age	OMIM:617119
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia	OMIM:222100
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Optic atrophy, Atypical scarring of skin, Hypogonadism, Type II diabet...	ORPHA:791
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Aggressive behavior, Hypogonadism, Abnormal autonomic ...	ORPHA:97229
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Bardet-Biedl Syndrome 9	Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia	OMIM:615986
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:79083
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:2348
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity, Sparse body hair	ORPHA:85274
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to...	ORPHA:26792
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:226313
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ...	ORPHA:261229
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow	OMIM:309585
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Mantle Cell Lymphoma	Fever, Anorexia, Weight loss	ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c...	OMIM:619386
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Mitchell Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:618960
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis...	OMIM:618400
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Narcolepsy Type 1	Obesity	ORPHA:2073
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Idiopathic Congenital Hypothyroidism	Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv...	ORPHA:95717
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta...	ORPHA:2849
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
11P15.4 Microduplication Syndrome	Synophrys, Obesity, Highly arched eyebrow, Aggressive behavior	ORPHA:300305
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i...	OMIM:246200
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Abnor...	ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Decreased HDL cholester...	ORPHA:247585
Riboflavin Deficiency	Hypoglycemia, Hypothermia	OMIM:615026
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat...	ORPHA:2088
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati...	ORPHA:280365
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp...	ORPHA:412
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Intellectual Developmental Disorder, X-Linked 91	Obesity, Low posterior hairline	OMIM:300577
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Diabetes insipidus, Abnormal autonomic nervous system physiology	OMIM:598500
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypothermia	OMIM:610006
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi...	ORPHA:69663
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ...	ORPHA:95716
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Tuberculosis	Fever, Weight loss	ORPHA:3389
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Undifferentiated Pleomorphic Sarcoma	Fever, Anorexia, Weight loss	ORPHA:2023
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Immunodeficiency 61	Attention deficit hyperactivity disorder, Obesity, Recurrent fever	OMIM:300310
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H...	ORPHA:79319
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism, Sparse body hair	ORPHA:261483
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:101046
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder	OMIM:617935
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop...	OMIM:264470
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
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
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal...	OMIM:606407
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki...	OMIM:615547
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Synophrys, Obesity, Malignant hyperthermia, Congenital hypothyroidism, Horizontal eyebrow	ORPHA:352530
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow	ORPHA:171829
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism	OMIM:604931
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex...	ORPHA:785
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Kleine-Levin Syndrome	Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A...	ORPHA:33543
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple...	ORPHA:444490
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Summitt Syndrome	Obesity	OMIM:272350
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia...	ORPHA:101330
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Short Syndrome	Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul...	OMIM:269880
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Hypothermia	OMIM:245400
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture, Agitation, A...	OMIM:613870
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Obesity, Low posterior ha...	ORPHA:2183
Autoinflammatory-Pancytopenia Syndrome	Fever, Lipodystrophy, Type I diabetes mellitus, Failure to thrive, Recurrent fever	OMIM:619858
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity	OMIM:615993
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T...	ORPHA:91
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Optic atrophy, Obesity	OMIM:614651
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas...	OMIM:261680
Beta-Ketothiolase Deficiency	Fever, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia	ORPHA:134
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper...	OMIM:602579
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated...	ORPHA:79240
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Hereditary Central Diabetes Insipidus	Fever, Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn...	OMIM:214150
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Synophrys, Obesity, Long eyelashes, Lipoma, Thick eyebrow	ORPHA:480907
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Secondary Short Bowel Syndrome	Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Cent...	ORPHA:95427
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy...	OMIM:606721
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Obesity, Thick eyebrow	ORPHA:444002
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir...	OMIM:300942
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis, Obesity	OMIM:615996
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Pituitary hypothyroi...	ORPHA:90674
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder dysfun...	ORPHA:330001
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Infantile Neuroaxonal Dystrophy	Hyperactivity, Impulsivity, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system...	ORPHA:35069
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Hypogonadism, Obesity, Low posterior hairline	ORPHA:2233
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac...	OMIM:618493
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno...	ORPHA:525731
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Nephronophthisis 15	Elevated hepatic transaminase, Obesity	OMIM:614845
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Synophrys, Obesity, Attention deficit hyperactivity disorder, T...	OMIM:617991
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra...	ORPHA:90673
Rafiq Syndrome	Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Aggressive behavior, Flexion contracture, O...	OMIM:614202
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Impulsiv...	ORPHA:398069
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct...	ORPHA:227510
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me...	ORPHA:98908
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity	OMIM:615982
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Necrotizing Enterocolitis	Temperature instability, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate...	OMIM:603233
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type...	ORPHA:10
Fatal Familial Insomnia	Weight loss, Abnormal autonomic nervous system physiology, Dysphagia	OMIM:600072
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function, Dysphagia	ORPHA:70472
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Central Diabetes Insipidus	Fever, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus	ORPHA:178029
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Porphyria Variegata	Elevated hepatic transaminase, Hyponatremia, Scarring, Abnormal circulating porphyrin concentrati...	ORPHA:79473
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Hypergonadotropic hypog...	ORPHA:298
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Weight loss, Abnormality of the live...	ORPHA:85443
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Abnormal autonomic nervous system physiology, Optic atrophy, Inguinal hernia	OMIM:614498
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys...	OMIM:243180
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ...	ORPHA:819
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism, Red hair, Fair hair	OMIM:614613
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Tetanus	Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase concentration,...	ORPHA:3299
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow	ORPHA:2429
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Abnormal autonomic nervous system physiology	ORPHA:314652
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Overgrowth, High anterior hairline, Polyphagia, Hirsutism	OMIM:616831
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beh...	ORPHA:254346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-injuriou...	OMIM:600430
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty	OMIM:301900
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Intellectual Developmental Disorder, Autosomal Recessive 46	Aggressive behavior, Large for gestational age, Synophrys, Self-injurious behavior, Agitation	OMIM:616116
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Prader-Willi Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	OMIM:176270
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Timothy Syndrome	Hypothyroidism, Hypothermia, Hypoglycemia	OMIM:601005
Whipple Disease	Hyponatremia, Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Hyp...	ORPHA:3452
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity	ORPHA:3077
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Hypothermia, Overweight, Obesity, Hypoketotic hypoglycemia	ORPHA:26793
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ...	ORPHA:79303
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Polypha...	ORPHA:251004
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ...	ORPHA:397941
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyphagia, Self-...	ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Synophrys, Truncal obesity, Bruxism, Recurrent hand flapping	OMIM:613192
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado...	ORPHA:2959
Trisomy 5P	Obesity	ORPHA:1742
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatos...	ORPHA:466934
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Multiple System Atrophy	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ...	ORPHA:102
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Abnormal autonomic nervous system physiology, Ort...	ORPHA:441
Wolfram Syndrome	Diabetes mellitus, Abnormal mesentery morphology, Optic atrophy, Hypogonadism, Abnormal autonomic...	ORPHA:3463
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Ina...	ORPHA:98794
Multicentric Reticulohistiocytosis	Fever, Cachexia	ORPHA:139436
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:613101
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Werner Syndrome	Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes...	ORPHA:902
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, Insulin resistance, Bil...	OMIM:209900
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Alexander Disease	Diabetes mellitus, Facial palsy, Precocious puberty, Self-injurious behavior, Abnormal autonomic ...	ORPHA:58
Multiple System Atrophy, Parkinsonian Type	Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ...	ORPHA:98933
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypogonadotropic hypogonadism, Optic atrophy, Autonomic bladder dysfunction, Dysphagia, Delayed p...	ORPHA:447896
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism, Thick eyebrow	ORPHA:3459
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Sparse scalp hair, Diabetes mellitus, Lipodystrophy, Highly ...	OMIM:270450
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Abnormal autonomic nervous system physiology	ORPHA:163921
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati...	ORPHA:99901
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Corneal scarring, Abnormal autonomic nervous system physiology, Postural hypotensi...	OMIM:256800
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Hyperglycemia, Decreased serum tes...	ORPHA:465508
Angelman Syndrome	Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thru...	ORPHA:72
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip...	OMIM:616541
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:363722
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont...	ORPHA:391372
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia	ORPHA:230
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Overweight, Obesity	OMIM:617406
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger	ORPHA:2928
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism	OMIM:617903
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure ...	OMIM:236200
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp...	ORPHA:79445
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Fever, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Recurrent fever	OMIM:201910
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostati...	OMIM:169500
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Hypothy...	OMIM:617575
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Retinal Dystrophy And Obesity	Peripapillary atrophy, Obesity	OMIM:616188
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ...	ORPHA:3157
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc...	ORPHA:90301
Haddad Syndrome	Aganglionic megacolon, Failure to thrive, Small for gestational age, Abnormal autonomic nervous s...	ORPHA:99803
Baralle-Macken Syndrome	Obesity, Hirsutism	OMIM:619255
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology, Aggressive behavior	OMIM:300894
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypothermia	OMIM:309400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper ta...	ORPHA:163681
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Nonketotic hypoglycemia, Hypothermia, Anorexia, Weight loss, Recurrent hypoglycemia	ORPHA:20
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration	OMIM:618398
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m...	ORPHA:412035
Meningococcal Meningitis	Fever, Hypothermia, Anorexia	ORPHA:33475
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Hyperuricemia, Attention deficit hyperactivity disorder, Obesity	ORPHA:261222
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia, Hypothermia	OMIM:618329
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hy...	ORPHA:358
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia...	ORPHA:79474
Senior-Loken Syndrome 9	Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis	OMIM:616629
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture	OMIM:300055
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, Increased serum testosteron...	ORPHA:247768
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti...	OMIM:231530
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis...	ORPHA:83601
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture...	OMIM:616263
Leukodystrophy, Hypomyelinating, 12	Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Hepatosplenomegaly, Hypogonadism, Hernia,...	ORPHA:168569
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Long eyelashes, Obesity, Tall stature	OMIM:618089
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Hypothyroidism, Addictive alcohol use	ORPHA:90065
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:109150
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja...	OMIM:603553
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid...	OMIM:619487
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur...	ORPHA:99885
Radio-Tartaglia Syndrome	Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Aggressive behavior, Syn...	OMIM:619312
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis	ORPHA:977
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co...	OMIM:218700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Hypothermia	OMIM:618775
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypothermia, Hypoketotic hypoglycemia	ORPHA:159
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Frontal balding, Early balding, Truncal obesity, Hypogonadis...	ORPHA:3041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidem...	ORPHA:79259
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large...	OMIM:616026
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Long eyelashes	OMIM:620191
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormality of temperature regulation, Camptodactyly of finger, Heat intolerance	ORPHA:2926
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:610198
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H...	ORPHA:470
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli...	ORPHA:96263
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Truncal obesity, Attention deficit hyperactivity disorder, Spars...	ORPHA:284180
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Synophrys, Increased body weight, Impulsivity, Attention deficit hyperactivity disorder	ORPHA:589905
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Synophrys, Low anterior hairline, Truncal obesity, Hypogonadism, Long eyel...	OMIM:300882
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Young-Onset Parkinson Disease	Restless legs, Agitation, Abnormal autonomic nervous system physiology, Impulsivity	ORPHA:2828
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c...	ORPHA:453533
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe	ORPHA:3409
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce...	ORPHA:91355
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased body weight, Sever...	ORPHA:1051
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia...	OMIM:227810
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity	ORPHA:171839
Alternating Hemiplegia Of Childhood	Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Abnormal autonomic nervous...	ORPHA:2131
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
Orthostatic Hypotension 1	Intermittent hypothermia, Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Flexion contracture, Abnormal auton...	ORPHA:99027
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neopla...	ORPHA:404443
Trisomy 18P	Polyphagia, Facial palsy, Attention deficit hyperactivity disorder	ORPHA:1715
Pfapa Syndrome	Abnormality of temperature regulation, Weight loss	ORPHA:42642
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Cole Disease	Hyperglycemia	OMIM:615522
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Abno...	OMIM:212065
Solitary Fibrous Tumor	Fever, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypoinsulinemia	ORPHA:2126
Choreoacanthocytosis	Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele...	ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
X-Linked Intellectual Disability, Stevenson Type	Thick eyebrow, Obesity, Tall stature	ORPHA:85325
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Carpenter Syndrome	Umbilical hernia, Obesity, Polysplenia	ORPHA:65759
Pyruvate Carboxylase Deficiency	Hypoglycemia, Anorexia, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand flapping, ...	ORPHA:3008
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Chromosome 3Q29 Duplication Syndrome	Obesity, Low posterior hairline	OMIM:611936
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag...	OMIM:609136
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Failure to thrive	ORPHA:17
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy...	ORPHA:699
Trisomy 20P	Inguinal hernia, Camptodactyly of finger, Abnormal autonomic nervous system physiology, Hernia, U...	ORPHA:261318
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,...	OMIM:615418
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ...	ORPHA:66634
Wagr Syndrome	Obesity	ORPHA:893
Idiopathic Intracranial Hypertension	Papilledema, Obesity	ORPHA:238624
Late-Onset Familial Hypoaldosteronism	Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ...	ORPHA:556037
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology	ORPHA:300570
Tick-Borne Encephalitis	Elevated hepatic transaminase, Facial palsy, Elevated circulating C-reactive protein concentratio...	ORPHA:297
White-Sutton Syndrome	Hyperactivity, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Aggressive behavior, Obes...	OMIM:616364
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hypertrichosis, Failure to thrive, Obesity, Abnormality of the hairline	OMIM:610543
Laurence-Moon Syndrome	Obesity	OMIM:245800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Increased circulating NT-proBNP concentration, Abnorm...	ORPHA:85451
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology, Dysphagia	OMIM:168600
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact...	OMIM:301039
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin...	OMIM:300860
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Aggress...	ORPHA:85293
Down Syndrome	Aganglionic megacolon, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism	ORPHA:870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Hypothyroidism, Abnormal autonomic nervous system physiology, Bruxism	ORPHA:453499
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia	ORPHA:90153
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity	ORPHA:464288
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Arthrogryposis multiplex congenita, Inguinal hernia, Flexion contracture	ORPHA:440713
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Broad lateral eyebrow, Long eyelashes, Obesity, Neonatal hypoglycemia	OMIM:608624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:247234
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology	ORPHA:101016
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Fabry Disease	Elevated circulating globotriaosylceramide concentration, Abnormal autonomic nervous system physi...	OMIM:301500
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea...	ORPHA:746
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Synophrys, Obesity, Fine hair, Long eyelashes, Overgrowth	OMIM:620250
2Q37 Microdeletion Syndrome	Sparse scalp hair, Highly arched eyebrow, Congenital diaphragmatic hernia, Sparse eyebrow, Supern...	ORPHA:1001
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati...	ORPHA:77293
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Hypothermia, Atypical scarring of skin, ...	ORPHA:565
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Panniculitis, Weight loss	ORPHA:86884
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cranial nerve compression, Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Immunodeficiency 9	Heat intolerance, Hypoplasia of the thymus, Failure to thrive, Recurrent fever, Amelogenesis impe...	OMIM:612782
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, Obesity, Dysphagia	ORPHA:589821
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Optic atrophy, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Fai...	ORPHA:436271
Ulnar-Mammary Syndrome	Abnormality of temperature regulation, Camptodactyly of finger, Obesity, Breast aplasia, Hypoplas...	ORPHA:3138
Fragile X-Associated Tremor/Ataxia Syndrome	Hypothyroidism, Abnormal autonomic nervous system physiology, Compulsive behaviors, Dysphagia	ORPHA:93256
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,...	OMIM:301066
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Dysphagia, Knee flexion contracture, Abnormal autonomic nervous system...	OMIM:601559
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age	OMIM:618272
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Joubert Syndrome 8	Hepatomegaly, Optic disc pallor, Obesity, Prolonged neonatal jaundice	OMIM:612291
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology, Dysphagia	ORPHA:171695
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth	OMIM:605309
Joubert Syndrome 37	Hepatomegaly, Obesity	OMIM:619185
Adiposis Dolorosa	Sparse pubic hair, Hypothyroidism, Obesity, Sparse axillary hair	ORPHA:36397
Bardet-Biedl Syndrome	Hypogonadism, Hypoplasia of the ovary, Hepatic fibrosis, Obesity	ORPHA:110
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Congenital Enterovirus Infection	Fever, Hypothermia	ORPHA:292
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity	OMIM:615994
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Decreased n...	OMIM:261515
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesi...	ORPHA:404448
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Congenital Myopathy 9A	Obesity	OMIM:618822
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long...	OMIM:156200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h...	OMIM:613658
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat...	OMIM:229600
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Optic disc pallor, Small for gest...	ORPHA:404454
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Megalencephaly	Truncal obesity	ORPHA:2477
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi...	OMIM:619313
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermi...	ORPHA:488632
Periodic Fever, Menstrual Cycle-Dependent	Fever, Increased circulating cortisol level	OMIM:614674
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Borjeson-Forssman-Lehmann Syndrome	Truncal obesity, Hypogonadism, Sparse hair, Camptodactyly of toe, Thick eyebrow	ORPHA:127
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Agg...	OMIM:619075
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ...	ORPHA:14
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Failure to thrive, Hypothermia, Dysphagia	ORPHA:255210
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Shox-Related Short Stature	Obesity	ORPHA:314795
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h...	ORPHA:444077
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Den Hoed-De Boer-Voisin Syndrome	Overweight, Widow's peak, Obesity, Stereotypical hand wringing, Dysphagia, Agitation, Decreased b...	OMIM:619229
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap...	OMIM:600001
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav...	ORPHA:468678
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Optic atrophy, Decreased liver function, Increased intramyocellular lipid droplets,...	OMIM:220110
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Optic atrophy, Obesity, Polysplenia, Camptodactyly, Umbilical he...	OMIM:201000
Nodular Non-Suppurative Panniculitis	Fever, Panniculitis, Weight loss	ORPHA:33577
Weaver Syndrome	Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly...	OMIM:277590
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hypoglycemia, Hypothermia	ORPHA:79282
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hypersexuality, Agitati...	ORPHA:217253
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity, Compulsive behaviors	OMIM:618443
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav...	ORPHA:369950
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo...	ORPHA:96149
Sotos Syndrome	Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent...	OMIM:117550
Ring Chromosome Y Syndrome	Male hypogonadism, Streak ovary, Obesity	ORPHA:261529
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Decreased serum leptin, Sparse eyebro...	OMIM:614008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Kleefstra Syndrome 1	Aggressive behavior, Synophrys, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:610253
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Fasciitis, Hyperactivity, Hypothermia, Impulsivity, Corneal scarring, Dysphagia, Aty...	ORPHA:642
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature	ORPHA:2563
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Tongue thrusting, Intermittent hypothermia	OMIM:608643
Dend Syndrome	Hyperglycemia	ORPHA:79134
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circula...	ORPHA:90790
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity	ORPHA:369837
Kleefstra Syndrome	Highly arched eyebrow, Supernumerary nipple, Aggressive behavior, Synophrys, Obesity, Self-injuri...	ORPHA:261494
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Obesity	OMIM:194072
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Angelman Syndrome	Hyperactivity, Paroxysmal bursts of laughter, Fair hair, Obesity	OMIM:105830
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin...	OMIM:260370
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Abnormal repetitive mannerism...	ORPHA:1606
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Abnormal repe...	OMIM:615873
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis, Type II diabetes mellitus, Small for gestational age	OMIM:210900
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Obesity, Male hypogonadism, Pan...	OMIM:619471
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Fine hair, Sparse hair, Polyphagia, Self-mutilation	ORPHA:251028
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Obesity	ORPHA:563
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Abdominal obesity, Hypoplasia of the ...	OMIM:619321
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Thick hair, Atypical scarr...	ORPHA:198
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Orthostatic hypotension, Obesity, Dysphagia	ORPHA:2822
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Low anterior hai...	OMIM:220111
Spinocerebellar Ataxia Type 3	Abnormality of temperature regulation	ORPHA:98757
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus	OMIM:619269
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Femoral hernia, Highly arched eyebrow, Synophrys, Obesity, Failure to thrive	ORPHA:96147
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Optic atrophy, Obesity, Hypogonadism	OMIM:614231
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Supernumerary nipple	ORPHA:3224
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	OMIM:615926
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Obesity, Overgrowth	OMIM:620155
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re...	ORPHA:3455
Scorpion Envenomation	Fever, Restlessness, Hyperglycemia, Glycosuria	ORPHA:466677
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Ethylene Glycol Poisoning	Addictive alcohol use, Hypothermia	ORPHA:31826
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Papilledema, Hypogonadotropic hyp...	ORPHA:2495
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Synophrys, Obesity, Self-injurious behavior, Attention defici...	OMIM:616078
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi...	OMIM:619475
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large...	OMIM:600501
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Decreased nerve conduction vel...	ORPHA:167
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Synophrys, Hirsutism, Obesity, Truncal obesity, Self-injurious behavior, Att...	ORPHA:466950
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Optic atrophy, Hypoalbuminemia, Macrovesicular h...	OMIM:617303
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D...	ORPHA:478
Joubert Syndrome 35	Synophrys, Abnormality of temperature regulation, Highly arched eyebrow	OMIM:618161
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Delayed puberty...	OMIM:216550
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Cohen Syndrome	Failure to thrive in infancy, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Obe...	ORPHA:193
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti...	ORPHA:177907
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth...	OMIM:232200
Deeah Syndrome	Abnormality of temperature regulation, Decreased response to growth hormone stimulation test, Ant...	OMIM:619004
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth...	OMIM:300868
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Tall stature, Hypoglycemia, Inguinal hernia...	ORPHA:116
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Abnormal autonomic nervous s...	ORPHA:139417
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy...	OMIM:264090
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture...	ORPHA:3206
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Obesity	OMIM:617296
Marburg Hemorrhagic Fever	Fever, Hypoglycemia, Hypothermia, Aggressive behavior, Anorexia	ORPHA:99826
Leprosy	Abnormality of the spleen, Abnormality of the seventh cranial nerve, Abnormality of the liver, Ab...	ORPHA:548
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ...	OMIM:188400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Beta-Thalassemia	Abnormality of temperature regulation, Hypogonadotropic hypogonadism	ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Trichorrhexis nodosa, Abnormality of temperature regulation, Highly arched eyebrow	OMIM:619173
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Sarcoidosis	Fever, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Hypothermia, Weight loss, Abnorma...	ORPHA:797
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:209880
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Inguinal hernia, Optic atrophy, Obesity	OMIM:614947
Chops Syndrome	Curly hair, Thick hair, Synophrys, Obesity, Coarse hair, Long eyelashes, Thick eyebrow	OMIM:616368
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior...	ORPHA:438213
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Aganglionic megacolon, Aggressive behavior, Precocious puberty, Sple...	OMIM:270400
Diamond-Blackfan Anemia 21	Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow	OMIM:620072
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly	ORPHA:31150
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Fine hair, Truncal obesity, Attention deficit hyperactivity disorder, Aplasia...	ORPHA:2637
Cockayne Syndrome Type 1	Abnormality of temperature regulation, Foot joint contracture, Scarring, Male hypogonadism, Ename...	ORPHA:90321
Achondroplasia	Obesity	ORPHA:15
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Aggressive behavior, Optic disc coloboma, Polyphagia,...	OMIM:607872
Bardet-Biedl Syndrome 12	Hypogonadism, Obesity	OMIM:615989
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou...	OMIM:620330
Xylt1-Cdg	Hepatomegaly, Truncal obesity	ORPHA:370930
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
White-Kernohan Syndrome	Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal eyebrow, Attention deficit h...	OMIM:619426
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Hypothyroidism, Increased circulating ferritin concentration, Hepatit...	OMIM:615846
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia	ORPHA:79477
Arima Syndrome	Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis	OMIM:243910
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity	ORPHA:319675
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Obesity, Abnormal repetitive manner...	OMIM:618653
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Synophrys, Obesity, Self-injurious behavior, Attention deficit hyperactivity...	ORPHA:466943
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody...	ORPHA:79318
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract...	OMIM:619503
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis	OMIM:616260
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Retinitis Pigmentosa 74	Optic disc pallor, Obesity	OMIM:616562
Machado-Joseph Disease Type 1	Abnormality of temperature regulation, Dysphagia	ORPHA:276238
Machado-Joseph Disease Type 2	Abnormality of temperature regulation, Dysphagia	ORPHA:276241
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Aganglionic megacolon, Abnormal dental enam...	ORPHA:567
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesicular he...	OMIM:300855
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder	OMIM:619934
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Carney Complex	Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol...	ORPHA:1359
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco...	OMIM:618278
Machado-Joseph Disease Type 3	Abnormality of temperature regulation, Dysphagia	ORPHA:276244
Kabuki Syndrome	Highly arched eyebrow, Congenital diaphragmatic hernia, Precocious puberty, Obesity, Long eyelash...	ORPHA:2322
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm...	OMIM:222700
Perlman Syndrome	Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy...	OMIM:267000
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Long eyelashes, Bruxism, Umbilical hernia, Thick eyebrow	ORPHA:48652
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens...	OMIM:194050
Primrose Syndrome	Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul...	OMIM:259050
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Chronic pancreatitis, Hyperlipidemia, Xanth...	OMIM:232240
Desbuquois Dysplasia 2	Truncal obesity, Synophrys	OMIM:615777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in...	ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, Low posterior hairline, Delayed ...	ORPHA:1772
Chronic Mucocutaneous Candidiasis	Abnormality of temperature regulation, Abnormal dental enamel morphology	ORPHA:1334
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Sparse axillary hair...	OMIM:181450
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Thick eyebrow, Hyperactivity, Small for gestational age, Premature thelarche, High...	OMIM:180849
Witteveen-Kolk Syndrome	Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s...	OMIM:613406
Myhre Syndrome	Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow	OMIM:139210
Williams Syndrome	Inguinal hernia, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine kina...	ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Highly arched eyebrow, Trichiasis, Aggressive behavior, Abnormal fear-induced beha...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Highly arched eyebrow, Trichiasis, Aggressive behavior, Abnormal fear-induced beha...	ORPHA:353277
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive	OMIM:617157
6Q Terminal Deletion Syndrome	Failure to thrive, Low anterior hairline, Obesity, Highly arched eyebrow	ORPHA:75857
Cornelia De Lange Syndrome	Curly eyelashes, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Low anterior ...	ORPHA:199
Carpenter Syndrome 2	Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Low anterior hairline, Obesity, Knee...	OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent...	ORPHA:70591
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Absent eyebrow, Alopecia, Abnormality of temperature regulation, Inguinal hernia, Ab...	ORPHA:2273
Hellp Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:244242
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Synophrys, Truncal obesity, Self-injurious behavior, Long...	OMIM:612474
Fabry Disease	Anorexia, Hyperlipidemia, Optic atrophy, Delayed puberty, Abnormal circulating lipid concentratio...	ORPHA:324
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Optic atrophy, Obesity, Hypogonadism, Paroxysmal bursts of laughter	OMIM:309580
Homozygous Familial Hypercholesterolemia	Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ...	ORPHA:391665
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Autosomal Recessive Malignant Osteopetrosis	Abnormality of temperature regulation, Abnormality of hair texture	ORPHA:667
Pallister-Killian Syndrome	Omphalocele, Sparse scalp hair, Inguinal hernia, Alopecia, Sparse eyelashes, Congenital diaphragm...	OMIM:601803

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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