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Gene: Trh MGI:98823

Gene Summary

Name:

thyrotropin releasing hormone

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased locomotor activity	Trh^em1(IMPC)Tcp	HOM	Early adult	4.63×10^-05
decreased exploration in new environment	Trh^em1(IMPC)Tcp	HOM	Early adult	7.41×10^-05
small heart	Trh^em1(IMPC)Tcp	HOM	Early adult	0.00
small kidney	Trh^em1(IMPC)Tcp	HOM	Early adult	0.00
increased bone mineral density	Trh^em1(IMPC)Tcp	HOM	Early adult	2.97×10^-07
decreased heart weight	Trh^em1(IMPC)Tcp	HOM	Early adult	9.21×10^-06
abnormal stomach morphology	Trh^em1(IMPC)Tcp	HOM	Early adult	0.00
increased circulating cholesterol level	Trh^em1(IMPC)Tcp	HOM	Early adult	1.86×10^-13
increased circulating creatinine level	Trh^em1(IMPC)Tcp	HOM	Early adult	3.43×10^-05
increased circulating HDL cholesterol level	Trh^em1(IMPC)Tcp	HOM	Early adult	9.79×10^-09
increased bone mineral content	Trh^em1(IMPC)Tcp	HOM	Early adult	5.92×10^-08
decreased heart rate	Trh^em1(IMPC)Tcp	HOM	Early adult	7.24×10^-06

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

4 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Trh 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 Trh (1 diseases)
Human diseases predicted to be associated with Trh (628 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Thyrotropin-Releasing Hormone Deficiency		Hypothalamic hypothyroidism, Short stature, Hypothyroidism	OMIM:275120

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

Disease	Matching phenotypes	Source
Acid-Labile Subunit Deficiency	Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard...	OMIM:615961
Maturity-Onset Diabetes Of The Young, Type 10	Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow...	OMIM:613370
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ...	ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Short stature	ORPHA:329249
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P...	OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ...	ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati...	ORPHA:171706
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona...	ORPHA:453533
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:619755
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli...	OMIM:262190
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Familial Renal Glucosuria	Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra...	ORPHA:69076
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus	OMIM:606176
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ...	OMIM:615925
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kin...	OMIM:212138
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increased bone d...	OMIM:136300
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Attention deficit hyperactivity disord...	OMIM:617182
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Isolated Osteopoikilosis	Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder	OMIM:301033
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,...	ORPHA:71526
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Cln3 Disease	Ataxia, Mental deterioration, Depression, Bradykinesia, Memory impairment, T-wave inversion, Deme...	ORPHA:228346
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Increased urine succinate level, Congestive heart failu...	OMIM:619048
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Depression, Memory impairment, Hypertension, Hyperostosis frontalis...	ORPHA:77296
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol...	OMIM:604367
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level	OMIM:202150
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, He...	OMIM:246200
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking	ORPHA:564003
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased...	OMIM:173100
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo...	OMIM:616276
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia	OMIM:608600
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Hyperkalemia,...	OMIM:620366
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Confusion, Depres...	ORPHA:36913
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617173
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga...	OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c...	OMIM:618815
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Lethargy, Neonatal h...	ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca...	OMIM:614702
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Episodic hyperhidro...	ORPHA:276580
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Episodic hyperhidrosis, Hyperinsulinem...	ORPHA:276575
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bile acid concent...	OMIM:619868
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci...	OMIM:616030
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre...	ORPHA:293964
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Idiopathic Non-Lupus Full-House Nephropathy	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating...	ORPHA:567544
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test...	ORPHA:79644
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating...	OMIM:179800
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ...	OMIM:616733
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Axial Osteomalacia	Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co...	OMIM:109130
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postna...	OMIM:616113
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia	OMIM:609286
Preeclampsia	Helicobacter pylori infection, Proteinuria, Chronic kidney disease, Elevated circulating creatini...	ORPHA:275555
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon...	OMIM:616950
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H...	ORPHA:247585
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Confusion, Myocardial infarction, Hematuria, Decreased serum cr...	ORPHA:54057
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short stature	ORPHA:66518
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia, Esophageal varix	ORPHA:75234
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin...	ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 54	Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty	OMIM:616033
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Lethargy, Abnormal c...	ORPHA:95716
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Fasting hyperinsulinemia, Short stature	OMIM:619489
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat...	OMIM:613327
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa...	ORPHA:1227
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P...	ORPHA:542306
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp...	ORPHA:276556
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi...	OMIM:618985
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu...	OMIM:615605
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme...	OMIM:616267
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor...	ORPHA:3299
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly	OMIM:610015
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ...	ORPHA:567548
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Cog4-Cdg	Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Ataxia, Irritability	ORPHA:263501
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, High palate, Joint hypermobility	ORPHA:254531
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes...	OMIM:618160
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp...	OMIM:617744
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia	OMIM:175700
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s...	OMIM:614897
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Macroglossia, Bradycardia, Attentio...	ORPHA:90674
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious ...	ORPHA:769
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Bone cyst, Macroglossia, Hypercholesterolemia, Hy...	ORPHA:528
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea...	ORPHA:542323
Pituitary Hormone Deficiency, Combined, 3	Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:221750
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Progressive neurologic deterioration, Raynaud phenomeno...	ORPHA:247691
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs in...	OMIM:613095
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Short stature	ORPHA:369873
Temple Syndrome	Hypertriglyceridemia, Flexion contracture, Cleft palate, High palate, Hypercholesterolemia, Bifid...	OMIM:616222
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Glycogen Storage Disease Ixc	Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p...	OMIM:613027
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati...	ORPHA:329918
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depressi...	ORPHA:94089
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula, Joint hypermobility	ORPHA:96184
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Growth del...	ORPHA:2088
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Hypergl...	OMIM:608612
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi...	OMIM:620351
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Joint contracture of the 5th finger, Atrioventricular block, Truncal ataxia	OMIM:614407
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia, Gastroesophageal reflux	OMIM:619814
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Cole Disease	Hyperglycemia	OMIM:615522
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat...	OMIM:174000
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Hyperglycemia, Hypoglycemia	OMIM:615453
Necrotizing Enterocolitis	Shock, Hyponatremia, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy	ORPHA:391673
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, H...	ORPHA:401923
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo...	ORPHA:2126
Smith-Magenis Syndrome	Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia, Abnormal heart morphology	OMIM:182290
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, G...	OMIM:269880
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Vasculitis	ORPHA:37748
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Tubulointerstitial fibrosis, O...	ORPHA:79259
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Isolated Sedoheptulokinase Deficiency	Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ...	ORPHA:440713
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:619468
Laron Syndrome	Hypercholesterolemia, Osteoarthritis, Hypoplasia of penis	ORPHA:633
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric...	OMIM:600649
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Galactokinase Deficiency	Psychomotor deterioration, Increased level of galactitol in plasma, Increased level of galactitol...	ORPHA:79237
Gaucher Disease Type 3	Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Atax...	ORPHA:77261
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased...	OMIM:228300
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital femora...	ORPHA:226313
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Abnormal renal corticomedullary differentiati...	OMIM:617397
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovari...	ORPHA:3085
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst...	OMIM:151660
Acitretin/Etretinate Embryopathy	Conotruncal defect, High palate, Third degree atrioventricular block, Bradycardia, Atrioventricul...	ORPHA:40366
Lethal Recessive Chondrodysplasia	Macroglossia, Generalized osteosclerosis	ORPHA:1423
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Limitation of joint mobility, Cleft palate, Abnormal vertebral se...	ORPHA:90650
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Neuhauser Syndrome	Osteopenia, Ataxia, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula	OMIM:249310
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete...	OMIM:248370
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ...	OMIM:608747
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat...	OMIM:259700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Esophagea...	ORPHA:264580
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Perimembranous ventricular septal defect, Hypoalbu...	OMIM:608104
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Smith-Magenis Syndrome	Hypertriglyceridemia, Joint stiffness, Abnormality of the ureter, Cleft palate, Gait disturbance,...	ORPHA:819
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90673
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Stiff neck, Confusion, Elevated circulating C-reactive protein concen...	ORPHA:319213
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K...	ORPHA:70
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati...	OMIM:609069
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Cleft palate, Oligosacchariduria, Delayed patellar ossification, ...	ORPHA:163649
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia	OMIM:612736
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Hypovolemia, Gout, El...	ORPHA:90041
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fasting hypogly...	ORPHA:263455
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Pericardial effusion, Osteoarthritis, Os...	ORPHA:77259
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Aminoaciduria, Gastroesophageal reflux, Bradycardia, Micropenis	OMIM:220120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugated hyperbiliru...	OMIM:619662
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f...	ORPHA:1782
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Ataxia, Joint hyperflexibility, High palate, Hypercholesterolemia	ORPHA:2479
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Co...	ORPHA:2457
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Elevated ci...	ORPHA:90038
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoproteinemia, Tachycardia, Ventricular septal defect, Elevated circulat...	ORPHA:26793
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cleft palate, Joint hyp...	ORPHA:628
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Increased bone...	ORPHA:355
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, High, narrow palate, Submucous cleft hard palate, Cleft palate, A...	ORPHA:2780
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Mental deterioration, Diaphyse...	OMIM:618476
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Osteomyelitis, Renal insufficiency, Elevated circulating creatine kinase conc...	ORPHA:36234
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe...	OMIM:614262
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Hypoalbuminemia, Lethargy, Inter...	ORPHA:99826
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Confusion, Hemolytic-uremic syndro...	OMIM:274150
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Abnormal pericardium morphology, Renal ins...	ORPHA:35687
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Cleft palate, High palate, I...	OMIM:154230
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Rayna...	ORPHA:416
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia	OMIM:614498
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Bradycardia, Mental deterioration, Lethargy	ORPHA:83600
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Proteinuria, Malabsorption, Flexion contracture, S...	ORPHA:77297
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Esophageal va...	OMIM:278000
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine	ORPHA:289601
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage...	ORPHA:730
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Jaw claudication, Depression, Syncope, Bradycardia	ORPHA:221098
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308700
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Attention deficit hyperactivity disorder, Unilateral renal agenesis, Abnorma...	ORPHA:281090
Retinitis Pigmentosa	Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ...	ORPHA:90695
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Increased bone mineral density, Confusion, Reduced bone minera...	ORPHA:79443
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Hepatocel...	ORPHA:79240
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Intrauterine growth retardation, Hyperg...	ORPHA:99885
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat...	OMIM:617478
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Bilat...	ORPHA:2260
Sickle Cell Anemia	Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil...	ORPHA:232
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Papillorenal Syndrome	Joint laxity, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differ...	OMIM:120330
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Hyperammonemia	ORPHA:664
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Gastrointestinal dysmotility,...	ORPHA:90051
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Increased bone mineral density, Confusion, Depression, Irritab...	ORPHA:79444
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Gout, Increased L...	ORPHA:412
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia	OMIM:612138
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, High palate, Hypospadias, Bradycardia	OMIM:619272
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Combined Oxidative Phosphorylation Defect Type 39	Loss of ambulation, Tip-toe gait, Bradycardia, Congenital foot contractures	ORPHA:565624
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi...	ORPHA:508
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Intrinsic Factor Deficiency	Reduced haptoglobin level, Absence of intrinsic factor	OMIM:261000
Fanconi-Bickel Syndrome	Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco...	OMIM:227810
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona...	ORPHA:860
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism	ORPHA:2849
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Werner Syndrome	Increased bone mineral density, Telangiectasia of the skin, Myocardial infarction, Joint stiffnes...	ORPHA:902
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Gastroesophageal reflux, Bradycardia	OMIM:608800
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Dend Syndrome	Hyperglycemia	ORPHA:79134
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Dysuria, Esophageal stricture, Dil...	ORPHA:79404
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Gastroesophageal reflux,...	ORPHA:98892
Bronchogenic Cyst	Abnormal pericardium morphology, Abnormal stomach morphology, Dysphagia, Abnormal myocardium morp...	ORPHA:2357
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:134
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea...	ORPHA:230
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Flexion contracture, Interphalange...	OMIM:613870
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, High palate, Thin bony cortex	ORPHA:85184
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly...	ORPHA:90652
Lysosomal Acid Lipase Deficiency	Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hypercholesterolemia, Renal salt w...	ORPHA:275761
12Q14 Microdeletion Syndrome	Intestinal malrotation, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney	ORPHA:94063
Multiple Myeloma	Osteopenia, Hypercalcemia, Nephropathy, Elevated circulating creatinine concentration, Functional...	ORPHA:29073
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Submucous cleft hard palate, Anomalous pu...	ORPHA:35107
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Gastrointestinal dysmotility, Gastroesophageal r...	ORPHA:363705
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Irritability, Decreased osteoclast count, O...	OMIM:259720
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Esophageal varix, Hyp...	ORPHA:64743
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu...	ORPHA:79126
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc...	ORPHA:556037
Desmosterolosis	Generalized osteosclerosis, Cleft palate, Abnormal circulating cholesterol concentration, Total a...	OMIM:602398
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat...	ORPHA:368
Bohring-Opitz Syndrome	Cardiomegaly, Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contractur...	ORPHA:97297
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis	ORPHA:363400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,...	ORPHA:293987
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Steinert Myotonic Dystrophy	Short attention span, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfu...	ORPHA:273
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Xanthelasm...	OMIM:210250
Low Phospholipid-Associated Cholelithiasis	Hypertension, Hypercholesterolemia, Hepatocellular carcinoma, Neoplasm of the liver	ORPHA:69663
Diffuse Alveolar Hemorrhage	Hematuria, Pulmonary venous hypertension, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of...	ORPHA:54595
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc...	ORPHA:556030
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Reduced bone mineral density	ORPHA:2617
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism	ORPHA:79319
Raine Syndrome	Increased bone mineral density, Hydroureter, Protruding tongue, Cleft palate, Subperiosteal bone ...	OMIM:259775
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Hypo...	ORPHA:534
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Pyloric stenosis, Cleft palate, Abn...	ORPHA:261197
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de...	OMIM:619534
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Bifid uvula, Hypocalcemic sei...	OMIM:241410
Metachromatic Leukodystrophy	Ataxia, Urinary incontinence, Abnormal stomach morphology, Tip-toe gait, Gait disturbance, Dement...	ORPHA:512
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D...	OMIM:619761
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin...	OMIM:266900
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ...	ORPHA:93126
Camurati-Engelmann Disease	Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ...	OMIM:131300
Atypical Werner Syndrome	Diabetes mellitus, Short stature, Abnormal circulating leptin concentration, Insulin-resistant di...	ORPHA:79474
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ...	ORPHA:91355
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, H...	ORPHA:71212
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, Epispadias, High, narrow ...	ORPHA:2658
Yellow Fever	Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent...	ORPHA:99829
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Osteomalac...	OMIM:309000
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec...	ORPHA:33364
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub...	ORPHA:3426
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Sanjad-Sakati Syndrome	Intestinal obstruction, Hypoplasia of penis, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Pyruvate Carboxylase Deficiency	Growth delay, Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Macroglossia, Increased bone mineral density	ORPHA:1798
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Pericardial effusion, Sclerosis of skull base, Pu...	ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary...	OMIM:618885
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Alstrom Syndrome	Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short stature, Decreased response to g...	OMIM:203800
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Urethr...	OMIM:226730
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Hyperbilirubinemia, Lethargy	OMIM:218700
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp...	OMIM:174900
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ...	OMIM:301068
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio...	OMIM:137920
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Bardet-Biedl Syndrome 20	Atrial septal defect, Hypercholesterolemia, Micropenis, Proteinuria	OMIM:619471
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Abnormal urinary color, Abnormal gastric mucosa morphology	ORPHA:234
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Achlorhydria, Abnormal blood ion conce...	ORPHA:173
Alagille Syndrome 1	Hypertriglyceridemia, Ventricular septal defect, Multiple small medullary renal cysts, Vesicouret...	OMIM:118450
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	OMIM:619476
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Fg Syndrome Type 1	Limited elbow extension and supination, Broad-based gait, Progressive flexion contractures, Hypos...	ORPHA:93932
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recurrent hypoglycemia,...	OMIM:124000
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Renal insufficiency, Gast...	ORPHA:31826
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Intrauterine growth retardati...	OMIM:600001
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Microgastria-Limb Reduction Defect Syndrome	Crossed fused renal ectopia, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia,...	ORPHA:2538
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Osteopetrosis	OMIM:612840
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor...	ORPHA:391665
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu...	ORPHA:75389
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo...	ORPHA:95494
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Ataxia, Pyloric stenosis, Unsteady gait, Submuc...	ORPHA:457279
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Hyperglycemia, Short stature, Decreased response to growth hormone stimulation test	ORPHA:444077
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Narrow pa...	OMIM:265800
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S...	ORPHA:449395
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit...	OMIM:618397
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Dysphagia, Knee flexion c...	OMIM:619461
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag...	ORPHA:141127
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang...	OMIM:161700
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Immunodeficiency 47	Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration, Joint ...	OMIM:300972
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Joint hypermobility, Sinus bradycardia	OMIM:261990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Abnormal pulmonary valve morphology, Craniosynostosis, Reduced bone mineral ...	ORPHA:667
Scorpion Envenomation	Hyperhidrosis, Hyperglycemia, Acute pancreatitis, Glycosuria	ORPHA:466677
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Dysmetria, Gait ataxia, Hypertension, Pu...	OMIM:606721
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myocardial infarction, Hiatus herni...	ORPHA:3342
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Short stature, Hypothyroidism	OMIM:275120
Reynolds Syndrome	Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Gastroesop...	ORPHA:779
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Distal renal tubular acidosis	OMIM:259730
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Renal ...	ORPHA:3138
Cleidocranial Dysplasia 1	Increased bone mineral density, High, narrow palate, Narrow palate, Increased susceptibility to f...	OMIM:119600
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Sinus bradycardia, Gastroesophageal reflux, D...	OMIM:619482
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Protruding tongue	ORPHA:50945
Apert Syndrome	Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C...	OMIM:101200
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Elevated circulating creatine kinase concentration, Distal renal tubular aci...	ORPHA:2785
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ...	ORPHA:2461
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Prader-Willi Syndrome	Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid dro...	OMIM:220111
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, High palate, Bradycardia, Joint hypermobility	OMIM:614437
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Abnormality of the urethra, Flexion contractu...	ORPHA:158684
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Dysphagia	OMIM:617248
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi...	OMIM:608594
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Gastroint...	ORPHA:1199
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Hepatoblastoma, Hyd...	OMIM:269150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Pyloric stenosis, Horseshoe kidne...	ORPHA:93111
Sclerosteosis 1	Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubul...	OMIM:269500
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bl...	OMIM:613177
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys...	OMIM:269700
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ...	ORPHA:90349
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Generalized joint laxity, Right vent...	OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Pyloric stenosis, Knee flexion contr...	OMIM:617402
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature	ORPHA:314621
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc...	ORPHA:79403
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies	Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati...	ORPHA:99413
Turner Syndrome	Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati...	ORPHA:881
Mosaic Monosomy X	Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati...	ORPHA:99228
Monosomy X	Short stature, High urinary gonadotropin level, Postnatal growth retardation, Increased circulati...	ORPHA:99226
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car...	ORPHA:99125
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318

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 Trh

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Trh.

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

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MGI Allele	Allele Type	Produced
Trh^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Trh^em1(IMPC)Tcp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trh MGI:98823

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Immunophenotyping

X-ray

X-ray

Immunophenotyping

Gross Pathology and Tissue Collection

X-ray

Human diseases caused by Trh mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data