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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
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 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
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
increased circulating HDL cholesterol level	Trh^em1(IMPC)Tcp	HOM	Early adult	9.79×10^-09
increased circulating creatinine level	Trh^em1(IMPC)Tcp	HOM	Early adult	3.43×10^-05
small heart	Trh^em1(IMPC)Tcp	HOM	Early adult	0.00
small kidney	Trh^em1(IMPC)Tcp	HOM	Early adult	0.00
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

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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 Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Immunophenotyping

Panel B FCS file(s)

4 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 (631 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		Hypothyroidism, Hypothalamic hypothyroidism, Short stature	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	Delayed puberty, Mild postnatal growth retardation, Insulin insensitivity, Decreased serum insuli...	OMIM:615961
Maturity-Onset Diabetes Of The Young, Type 10	Maturity-onset diabetes of the young, Hyperglycemia, Diabetic ketoacidosis, Diabetes mellitus, In...	OMIM:613370
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Short Stature Due To Partial Ghr Deficiency	Delayed puberty, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Hypog...	ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu...	OMIM:262700
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl...	ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge...	ORPHA:293964
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Prolonged neonatal jaundice, Severe short stature, Decreased serum insulin-like gro...	OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Short Stature Due To Ghsr Deficiency	Delayed puberty, Short stature, Growth delay, Decreased serum insulin-like growth factor 1, Hypog...	ORPHA:314811
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D...	ORPHA:453533
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Short stature, Hyperglycemia, Diabeti...	OMIM:262190
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 1	Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c...	ORPHA:552
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad...	OMIM:616201
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Hypoglycemia, Severe short stature	OMIM:223500
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon...	OMIM:618157
Delayed Puberty, Self-Limited	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619613
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit...	OMIM:615925
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Patent foramen ovale, Attention defici...	OMIM:617182
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Ataxia, Dementia, Increased bone d...	OMIM:136300
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Hypothyroidism, Congenital, Nongoitrous, 8	Attention deficit hyperactivity disorder, Hypercholesterolemia, Diminished ability to concentrate	OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Dicarboxylic aciduria, Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Elevat...	OMIM:212138
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Villous atrophy	OMIM:615863
Renal Failure, Progressive, With Hypertension	Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine conc...	OMIM:161900
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, Left ventricular...	OMIM:619048
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia	OMIM:222100
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Atrial flutter, Abnormality of the gastrointestinal tract, Lef...	ORPHA:439232
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Depression, Memory impairment, Hypertension, Hyperostosis frontalis interna, Osteo...	ORPHA:77296
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin...	OMIM:604367
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, Hypertr...	OMIM:618235
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Hyperinsulinemia	ORPHA:329249
Melorheostosis With Osteopoikilosis	Hypertension, Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Donohue Syndrome	Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious pub...	OMIM:246200
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Idiopathic Congenital Hypothyroidism	Bradycardia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Macro...	ORPHA:95717
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa...	OMIM:615954
Osteochondrosis Of The Metatarsal Bone	Difficulty walking, Arthritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Isolated Growth Hormone Deficiency, Type Ii	Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior pituitary hyp...	OMIM:173100
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increased bone mineral density, Cort...	OMIM:620366
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Ventricular septal defect, Hypoplastic left ...	OMIM:616276
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Lipoyltransferase 1 Deficiency	Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Hypergl...	OMIM:616299
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic...	ORPHA:276608
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Mueller-Weiss Syndrome	Difficulty walking, Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiff...	ORPHA:566943
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Increased circulating brain natriuretic peptide ...	OMIM:601494
Distal Myopathy, Tateyama Type	Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Autoimmune Hypoparathyroidism	Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Increased bone mineral ...	ORPHA:36913
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617173
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c...	OMIM:620651
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Episodic hyperhidrosis, Maturity-...	ORPHA:324575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me...	ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, ...	OMIM:614702
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Arthritis, Hypertension, Synovitis, Nephrotic syndrome, Microscopic hematuri...	ORPHA:567544
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopath...	OMIM:618815
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia...	OMIM:619868
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Cognitive impair...	OMIM:208920
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Dysphagia, Bradycardia	OMIM:620265
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Maternal diabetes, Hypoketotic h...	ORPHA:276580
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Glycogen Storage Disease Iv	Bradycardia, Tubulointerstitial fibrosis, Esophageal varix, Cardiomyopathy, Portal hypertension, ...	OMIM:232500
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl...	ORPHA:276575
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Short stature	ORPHA:2089
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, ...	OMIM:179800
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Abnormal renal corticomedullary differentiation, Flexion contracture, Left ventricu...	OMIM:616733
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio...	ORPHA:90065
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of the ventricu...	OMIM:615745
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Minimal change glomerulonephritis, High palate, Focal segmental glomerulosc...	OMIM:616730
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Confusion, Decreased serum creatinine, Proteinuria, Arrhythmia, R...	ORPHA:54057
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism...	OMIM:616113
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic...	OMIM:616277
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Left ventricular hypertrophy	OMIM:614654
Citrullinemia Type Ii	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr...	ORPHA:247585
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Dementia, Bradycardia, Depression, Cardiomyopathy, Gait disturbance, Dysphagia, Arrhythmia	OMIM:609286
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Renal Tubular Acidosis, Proximal	Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea...	OMIM:179830
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin...	ORPHA:97279
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Nephronophthisis 2	Hyperkalemia, Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstiti...	OMIM:602088
Pseudohypoparathyroidism Type 1B	Irritability, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Prolo...	ORPHA:94089
Wild Type Attr Amyloidosis	Congestive heart failure, Renal insufficiency, Bradycardia, Atrial fibrillation, Gastrointestinal...	ORPHA:330001
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Esophageal varix, Hypercholesterolemia	ORPHA:75234
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Hyperinsulinemia, Splenomegaly	ORPHA:66518
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Glucocorticoid Deficiency 3	Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero...	OMIM:609197
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce...	OMIM:277460
Combined Oxidative Phosphorylation Deficiency 54	Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris	OMIM:614025
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall...	OMIM:615710
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Osteopenia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevat...	OMIM:613327
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Familial Thyroid Dyshormonogenesis	Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea...	ORPHA:95716
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Short stature, Hyperinsulinemic hypoglycemia, Diabetes mellitus	OMIM:616033
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Fasting hyperinsulinemia, Short stature	OMIM:619489
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Short stature, Primary gonadal insu...	ORPHA:1227
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decre...	OMIM:300539
Fanconi Renotubular Syndrome 3	Rickets, Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating cr...	OMIM:615605
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Patent foramen ovale, Ventricular esca...	ORPHA:542306
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia...	ORPHA:276556
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Bicuspid aortic valve, Atrial se...	OMIM:617744
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Elevated cir...	OMIM:614817
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed puberty, Postnatal growth retardation, Thyroiditis, Short stature, Decreased serum insuli...	OMIM:618985
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Glutamine Deficiency, Congenital	Bradycardia, Camptodactyly, Hyperammonemia, Flexion contracture, Hypoglutaminemia	OMIM:610015
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin...	OMIM:608836
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis...	ORPHA:280356
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminem...	OMIM:616267
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Tetanus	Stiff neck, Bradycardia, Elevated urinary epinephrine level, Elevated urinary norepinephrine leve...	ORPHA:3299
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Depression, Abnormal circulating thyroglobulin concentration, Delayed proximal femor...	ORPHA:90674
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan...	ORPHA:567548
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Minimal change glomerulonephritis, High palate, Focal segmental glomerulosc...	OMIM:618348
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi...	OMIM:201400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Gait imbalance, Elevated circulating creatine kinase concentration, Urinary bladder sphincter dys...	ORPHA:64753
Cog4-Cdg	Irritability, Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Ataxia	ORPHA:263501
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai...	OMIM:615363
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h...	ORPHA:231720
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Joint hypermobility, High palate, Hypercholesterolemia	ORPHA:254531
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyp...	ORPHA:542323
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased response to growth hormone...	OMIM:618160
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Postprandial hyperglycemia	ORPHA:681
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Decrease...	ORPHA:470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia, Hypokalemia, Polycystic kidney dysplasia, Hypertension, Mul...	OMIM:613095
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614897
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Gastrointestinal hemorrhage, Glomerular sclerosis, Memory impairment, Depression, H...	ORPHA:247691
Congenital Disorder Of Glycosylation, Type Iio	Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype...	OMIM:616828
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Fasting hypoglycemia, Severe postnatal growth retardation, En...	ORPHA:769
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc...	ORPHA:210110
C3 Glomerulopathy	Acute kidney injury, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Chronic kidney dis...	ORPHA:329918
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Hypomethioninemia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria,...	OMIM:277400
Pituitary Hormone Deficiency, Combined, 3	Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior hypopituitari...	OMIM:221750
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Bone cyst, Hypertrophic cardiomyopathy, Increased...	ORPHA:528
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Temple Syndrome	Hypertriglyceridemia, High palate, Bifid uvula, Cleft palate, Flexion contracture, Joint hypermob...	OMIM:616222
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu...	OMIM:174000
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot...	ORPHA:465508
Congenital Myopathy 22A, Classic	Bradycardia, Waddling gait, High palate, Congenital finger flexion contractures, Osteoporosis, Tr...	OMIM:620351
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Hypercalciuria, Inc...	OMIM:239000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Joint hypermobility, Hypercholesterolemia	ORPHA:96184
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Elevated circulating luteinizin...	OMIM:229070
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Growth delay, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes me...	OMIM:608612
Fanconi-Bickel Syndrome	Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Truncal ataxia, Bradycardia, Joint contracture of the 5th finger	OMIM:614407
Preeclampsia	Acute kidney injury, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hyperte...	ORPHA:275555
Developmental And Epileptic Encephalopathy 101	Gastroesophageal reflux, Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia	OMIM:175700
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Hypoglycemia, Hyperglycemia	OMIM:615453
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal in...	OMIM:619468
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardiomyopathy, H...	ORPHA:401923
Glycogen Storage Disease Ixc	Postnatal growth retardation, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic gl...	OMIM:613027
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Insulin resistance, Hyperinsulinemia	OMIM:617885
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, Ventricular tac...	OMIM:600649
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Knee...	OMIM:620454
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Neoplasm o...	ORPHA:2126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Increased level of galactitol in urin...	ORPHA:79237
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyse...	ORPHA:90673
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c...	ORPHA:85451
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Difficulty walking, Elevated circulating creatine kinase concentration, Sinus bradycardia, Loss o...	OMIM:616812
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi...	ORPHA:79259
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Schnitzler Syndrome	Increased bone mineral density, Arthritis, Vasculitis	ORPHA:37748
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased circulating brain natriuretic peptide concentration, Ventricu...	OMIM:619747
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Short Syndrome	Hyperglycemia, Ovarian cyst, Birth length less than 3rd percentile, Intrauterine growth retardati...	OMIM:269880
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine m...	ORPHA:90291
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Severe postnatal growth retardation, Cholestasis, Portal hypertension,...	ORPHA:440713
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Laron Syndrome	Hypercholesterolemia, Osteoarthritis, Hypoplasia of penis	ORPHA:633
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Glomerular sclerosis, Gastroesophageal reflux, Emotional lability, Hyper...	OMIM:223900
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Decreased HDL cholesterol concentration, Gastrointestinal hemorrhage, I...	ORPHA:85450
Smith-Magenis Syndrome	Hypertriglyceridemia, Velopharyngeal insufficiency, Abnormal heart morphology, Hypercholesterolemia	OMIM:182290
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Neuroleptic Malignant Syndrome	Urinary incontinence, Bradycardia, Myoglobinuria, Hypertension, Hypertensive crisis, Dysphagia, A...	ORPHA:94093
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Coronary artery sten...	OMIM:615812
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Gaucher Disease Type 3	Hematuria, Dementia, Increased bone mineral density, Abnormal heart valve morphology, Mitral valv...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Protein-losing enteropathy, Camptodactyly, Hypoalbumine...	OMIM:608104
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Short stature, Type ...	ORPHA:3085
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Pseudo-Torch Syndrome 2	Bradycardia, Abnormal renal corticomedullary differentiation, Secundum atrial septal defect, Cere...	OMIM:617397
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Decreased circulating luteinizing hormone level, Testicular microlithiasis, Andr...	OMIM:228300
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Pol...	OMIM:151660
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Hypotensio...	ORPHA:91547
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Gastroeso...	OMIM:220120
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Hypocalcemia, Increased bone mineral den...	OMIM:259700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Absent ossification of capital femoral epiphysis, Macroglossia, Bradycardia, Delayed epiphyseal o...	ORPHA:226313
Necrotizing Enterocolitis	Bradycardia, Hypotension, Hyponatremia, Abnormal heart morphology, Lethargy, Shock	ORPHA:391673
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Macroglossia	ORPHA:1423
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Bradycardia, High palate, Median cleft palate, Conotruncal defect,...	ORPHA:40366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Cleft p...	ORPHA:90650
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612925
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cole Disease	Hyperglycemia	OMIM:615522
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Short stature, Elevated circulating growth hormone concentration, D...	OMIM:608747
Smith-Magenis Syndrome	Hypertriglyceridemia, Gastroesophageal reflux, Gait disturbance, Abnormality of the ureter, Joint...	ORPHA:819
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612926
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Elevated circulating creatine kinase concentration, Hy...	OMIM:618775
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Renal tubular acidosis, Myoglobinuria, Esophageal v...	ORPHA:264580
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycardia, Conf...	ORPHA:319213
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612924
Proximal Spinal Muscular Atrophy	Difficulty walking, Inability to walk, Gastroesophageal reflux, Bradycardia, Elbow flexion contra...	ORPHA:70
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Myocardial infarction, Elevated diastolic blood pressure, Hyp...	ORPHA:90041
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Irritability, Rectal prolapse, Hypokalemia, Acute colitis, Anuria, Hypertens...	ORPHA:90038
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption	OMIM:221400
Cryoglobulinemia, Familial Mixed	Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated...	OMIM:123550
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614837
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Hyperglycemia,...	OMIM:609069
Albers-Schönberg Osteopetrosis	Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu...	ORPHA:53
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Increased bone mineral density, High palate, Cleft palate, Delayed pa...	ORPHA:163649
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Coach Syndrome 2	Elevated circulating creatinine concentration, Hypertension	OMIM:619111
Mandibuloacral Dysplasia With Type A Lipodystrophy	Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Growth ...	OMIM:248370
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Hyperlipidemia, Cognitive i...	OMIM:235400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Increased hepati...	ORPHA:263455
Alpha-1-Antitrypsin Deficiency	Gastric varix, Reduced circulating alpha-1-antitrypsin concentration, Hepatocellular carcinoma	OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 8	Increased serum bile acid concentration, Esophageal varix, Portal hypertension, Elevated circulat...	OMIM:619662
Panhypophysitis	Central diabetes insipidus, Abnormal thalamic MRI signal intensity, Reduced circulating prolactin...	ORPHA:95513
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ...	ORPHA:1782
Mandibuloacral Dysplasia	Hypertriglyceridemia, Abnormal tongue morphology, Osteolytic defects of the distal phalanges of t...	ORPHA:2457
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Confusion, Transient ischemic attack, Increased blood urea nitrogen, M...	OMIM:274150
Megalocornea-Intellectual Disability Syndrome	Osteopenia, High palate, Ataxia, Joint hypermobility, Hypercholesterolemia	ORPHA:2479
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i...	OMIM:203800
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Broad-based gait, Coronal craniosynostosis	OMIM:616943
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Atrial se...	OMIM:614262
Bacterial Toxic-Shock Syndrome	Myocarditis, Shock, Tachycardia, Hypocalcemia, Arthritis, Confusion, Capillary leak, Elevated cir...	ORPHA:36234
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Hypocalcemia, Patent foramen ovale, Hypoproteinemia,...	ORPHA:26793
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Diastrophic Dysplasia	Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Cleft palate, Joint hyp...	ORPHA:628
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Marburg Hemorrhagic Fever	Bradycardia, Hyperammonemia, Pericarditis, Elevated circulating creatinine concentration, Confusi...	ORPHA:99826
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
46,Xy Sex Reversal 4	Distal symphalangism, High palate, Anal atresia, Increased blood urea nitrogen, Ureteropelvic jun...	OMIM:154230
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Erdheim-Chester Disease	Xanthelasma, Congestive heart failure, Abnormal aortic valve morphology, Increased bone mineral d...	ORPHA:35687
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Difficulty walking, Diaphyseal sclerosis, Hypocalcemia, Cognitive impairment, Incr...	OMIM:618476
Neuhauser Syndrome	Osteopenia, High palate, Bifid uvula, Ataxia, Dysphagia, Hypercholesterolemia	OMIM:249310
Osteopathia Striata-Cranial Sclerosis Syndrome	Osteopetrosis, High, narrow palate, Increased bone mineral density, Aortic valve stenosis, Coarse...	ORPHA:2780
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy...	ORPHA:95512
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Elevated ...	OMIM:300257
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia	OMIM:614498
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Gaucher Disease	Decreased HDL cholesterol concentration, Joint stiffness, Ataxia, Dysphagia, Pathologic fracture,...	ORPHA:355
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Intrauterine gro...	ORPHA:99885
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria,...	ORPHA:416
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin...	OMIM:614376
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Bradycardia, Lethargy, Mental deterioration	ORPHA:83600
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Enures...	OMIM:614856
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Increased bone mineral density, Hyperoxaluria, Interm...	OMIM:259900
Syndromic Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Abnormal stomach morphology, Renal insufficiency, Unila...	ORPHA:281090
Structural Heart Defects And Renal Anomalies Syndrome	Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Renal cyst, Systolic heart murmur, T...	OMIM:617478
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hyperammonemia, Aminoaciduria	ORPHA:664
Oligomeganephronia	Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Unilateral r...	ORPHA:2260
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Bradycardia, Depression, Jaw claudication, Syncope, Odynophagia	ORPHA:221098
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Gastrointestinal inflammation...	ORPHA:186
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Non-Functioning Pituitary Adenoma	Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease...	ORPHA:91349
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hemorrhage, Flexion cont...	OMIM:614653
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Angina pectoris, Incr...	ORPHA:412
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Renal tubular acidosis, Myoglobinuria, Hepatocellul...	ORPHA:79240
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti...	ORPHA:2494
Pseudohypoparathyroidism Type 1A	Irritability, Calcinosis, Hypocalcemic seizures, Reduced bone mineral density, Low urinary cyclic...	ORPHA:79443
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi...	ORPHA:85188
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Bradycardia, Tachycardia, Functional abnor...	ORPHA:90051
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia	OMIM:612138
Spondyloepiphyseal Dysplasia Tarda	Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Eleva...	ORPHA:49041
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H...	ORPHA:86816
Pseudohypoparathyroidism Type 1C	Irritability, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administr...	ORPHA:79444
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Hypospadias, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Leprechaunism	Postnatal growth retardation, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Severe intrau...	ORPHA:508
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemi...	OMIM:131100
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Loss of ambulation, Bradycardia, Congenital foot contractures	ORPHA:565624
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Werner Syndrome	Congestive heart failure, Increased bone mineral density, Neoplasm of the small intestine, Hypert...	ORPHA:902
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ...	ORPHA:289176
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Gastroesophageal reflux, Bradycardia	OMIM:608800
Dend Syndrome	Hyperglycemia	ORPHA:79134
Fanconi-Bickel Syndrome	Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glyco...	OMIM:227810
Perlman Syndrome	Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension, Cerebral ischemia, T...	ORPHA:904
Intrinsic Factor Deficiency	Absence of intrinsic factor, Reduced haptoglobin level	OMIM:261000
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali...	ORPHA:860
Beta-Ketothiolase Deficiency	Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:134
Bronchogenic Cyst	Abnormal esophagus morphology, Abnormal pericardium morphology, Abnormal myocardium morphology, D...	ORPHA:2357
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Stif...	ORPHA:99827
Schwartz-Jampel Syndrome	Irritability, Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contra...	ORPHA:800
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Renal tubular epithelial necrosis, Hydroureter, Bradycardia, Dysur...	ORPHA:79404
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Elevated urinary dop...	ORPHA:230
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Congenital nephro...	OMIM:256300
Multiple Myeloma	Osteopenia, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Nephrotic ...	ORPHA:29073
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Irritability, Hypocalcemia, Hyperbilirubinemia, Increased bo...	OMIM:259720
Periventricular Nodular Heterotopia	Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morphology, Pyloric stenosis,...	ORPHA:98892
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Renal salt wasting, Esophageal vari...	ORPHA:275761
Hepatoportal Sclerosis	Gastric varix, Gastrointestinal hemorrhage, Hyperbilirubinemia, Hepatocellular carcinoma, Esophag...	ORPHA:64743
12Q14 Microdeletion Syndrome	Ectopic kidney, Osteopoikilosis, Intestinal malrotation, Renal hypoplasia, Horseshoe kidney	ORPHA:94063
Acute Interstitial Pneumonia	Pericardial effusion, Elevated circulating creatinine concentration, Hypertension, Elevated circu...	ORPHA:79126
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Ventricular hypertrophy, Hypertension, Mitral val...	ORPHA:363618
Majeed Syndrome	Increased bone mineral density, Synovitis, Microscopic hematuria, Proteinuria, Flexion contractur...	ORPHA:77297
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron...	ORPHA:556037
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, High palate, Thin bony cortex, Osteopenia	ORPHA:85184
Serrated Polyposis Syndrome	Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti...	ORPHA:157798
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Hypospadias, Increased bone mineral density, Abnormal heart valve morphology, ...	ORPHA:90652
Diffuse Alveolar Hemorrhage	Pulmonary venous hypertension, Elevated circulating creatinine concentration, Hematuria, Proteinuria	ORPHA:90060
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Desmosterolosis	Osteopetrosis, Increased bone mineral density, Intestinal malrotation, Bifid uvula, Cleft palate,...	ORPHA:35107
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Aortic valve stenosis, Cardiomegaly, Bicuspid aortic valve, Joint hy...	ORPHA:363705
Desmosterolosis	Elevated circulating desmosterol concentration, Abnormal circulating cholesterol concentration, T...	OMIM:602398
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption, Hypocholesterolemia	OMIM:614338
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Bohring-Opitz Syndrome	Fixed elbow flexion, Inability to walk, Bradycardia, Limitation of joint mobility, Bilateral wris...	ORPHA:97297
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis	ORPHA:363400
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl...	OMIM:259710
Hypomagnesemia 3, Renal	Hypertension, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentrat...	OMIM:248250
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia, Hypouricemi...	ORPHA:411634
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Arthritis,...	OMIM:210250
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Acute kidney injury, Abnormality of the gastrointestinal tract, Decrease...	ORPHA:93126
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Low Phospholipid-Associated Cholelithiasis	Neoplasm of the liver, Hypertension, Hypercholesterolemia, Hepatocellular carcinoma	ORPHA:69663
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron...	ORPHA:556030
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Inability to walk, Intestinal pseudo-obstruction, Falls, E...	ORPHA:273
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal growth retardati...	ORPHA:54595
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Abnorm...	ORPHA:261197
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, High palate, Protrudin...	OMIM:259775
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Congenital pyloric atresia	ORPHA:2617
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis	ORPHA:79319
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal...	ORPHA:763
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El...	OMIM:266900
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,...	ORPHA:91350
Metachromatic Leukodystrophy	Tip-toe gait, Urinary incontinence, Neoplasm of the gallbladder, Emotional lability, Gait disturb...	ORPHA:512
Prader-Willi Syndrome	Hypertriglyceridemia, Osteopenia, Decreased HDL cholesterol concentration, Osteoporosis, Micropen...	OMIM:176270
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Left-to-right shunt, Dark urine, Joint hypermobility, Stage 5 ch...	OMIM:619534
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Bifid uvula, Hyperphosphatemia, Micro...	OMIM:241410
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ...	OMIM:619761
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormal urinary color, Conjugated hyperbilirubinemia	ORPHA:234
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitarism, Hypogon...	ORPHA:91351
Yellow Fever	Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill...	ORPHA:99829
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, High palate, Sclerosis of hand bone, Sclerosis of skull base, S...	OMIM:224300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Proportionate short statu...	ORPHA:71212
Camurati-Engelmann Disease	Diaphyseal sclerosis, Increased bone mineral density, Waddling gait, Cortical thickening of long ...	OMIM:131300
Atypical Werner Syndrome	Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test...	ORPHA:79474
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Sheehan Syndrome	Central diabetes insipidus, Breast hypoplasia, Reduced circulating prolactin concentration, Pitui...	ORPHA:91355
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr...	OMIM:618885
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology	ORPHA:2978
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Cranial hyperostosis, Osteopetrosis, High, narrow palate, Abnormal cortical bone morp...	ORPHA:2658
Trichothiodystrophy	Osteopenia, High, narrow palate, Multiple joint contractures, Increased bone mineral density, Car...	ORPHA:33364
Oculocerebrorenal Syndrome Of Lowe	Joint stiffness, Nephrocalcinosis, Hypophosphatemia, Hyperaldosteronism, Multiple renal cysts, Jo...	ORPHA:534
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ...	ORPHA:64744
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia	OMIM:620423
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Macroglossia,...	OMIM:218700
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
Double Outlet Right Ventricle	Tachycardia, Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Intestinal malrotation, Cleft p...	ORPHA:3426
Pyruvate Carboxylase Deficiency	Growth delay, Hypoglycemia, Hepatomegaly, Hyperglycemia	ORPHA:3008
Dysostosis, Stanescu Type	Increased bone mineral density, Macroglossia, Massively thickened long bone cortices	ORPHA:1798
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Sanjad-Sakati Syndrome	Intestinal obstruction, Hypoplasia of penis, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	ORPHA:2323
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hypocalcemia, Increased bone mineral density, Thickened cortex of lon...	OMIM:127000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Hemolytic-uremic syndrome, Recurrent infection of the gastrointestinal...	OMIM:301110
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia, Hypospadias	OMIM:610644
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Sickle Cell Anemia	Ischemic stroke, Pulmonary arterial hypertension, Osteoporosis, Unconjugated hyperbilirubinemia, ...	ORPHA:232
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Rickets, Low-molecular-weight proteinuria, Pathologic fracture, Renal insufficien...	OMIM:309000
Bardet-Biedl Syndrome 20	Atrial septal defect, Hypercholesterolemia, Proteinuria, Micropenis	OMIM:619471
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Hypertension, Intestinal malrotation, Irritability, Patent f...	OMIM:301068
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Hyperuricemia, Nephrolithiasis, Renal cyst, Glycosuria, D...	OMIM:137920
Poems Syndrome	Sclerosis of hand bone, Pulmonary arterial hypertension, Pericardial effusion, Sclerosis of foot ...	ORPHA:2905
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy...	ORPHA:2965
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci...	ORPHA:89936
Igg4-Related Kidney Disease	Enlarged kidney, Pericarditis, Elevated circulating creatinine concentration, Urinary bladder inf...	ORPHA:449395
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Decr...	OMIM:619476
Histiocytoid Cardiomyopathy	Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Tachycardia, Atrial fib...	ORPHA:137675
Alagille Syndrome 1	Hypertriglyceridemia, Stage 5 chronic kidney disease, Renal tubular acidosis, Vesicoureteral refl...	OMIM:118450
Fg Syndrome Type 1	Hypospadias, Gastroesophageal reflux, Broad-based gait, Limited elbow extension and supination, H...	ORPHA:93932
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Truncus arterios...	ORPHA:2538
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hyperglycemia, R...	OMIM:124000
Cholera	Acute kidney injury, Irritability, Hypokalemia, Tachycardia, Hypocalcemia, Achlorhydria, Hypotens...	ORPHA:173
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m...	OMIM:600001
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH...	ORPHA:2495
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Homozygous Familial Hypercholesterolemia	Abnormal left ventricular function, Angina pectoris, Increased LDL cholesterol concentration, Hyp...	ORPHA:391665
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Shock, Hematuria, Prol...	ORPHA:31826
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Epistaxis	OMIM:612840
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Polycystic ova...	ORPHA:79086
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Pyloric stenosis, Mitral stenosis, Dysphagi...	OMIM:619461
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,...	ORPHA:263665
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu...	ORPHA:75389
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low frustration tolerance, Patent foramen ovale, High palate, Contracture of the proximal interph...	ORPHA:457279
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Short stature	ORPHA:444077
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Narrow pa...	OMIM:265800
Cocaine Intoxication	Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Mania, A...	ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis...	OMIM:618397
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Congenital Tracheal Stenosis	Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag...	ORPHA:141127
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Immunodeficiency 47	Joint hypermobility, Tricuspid regurgitation, Hypercholesterolemia, Decreased circulating copper ...	OMIM:300972
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,...	ORPHA:91347
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas...	ORPHA:3464
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bo...	OMIM:620558
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Dysdiadochokinesis, Hypertension, Pulmon...	OMIM:606721
Scorpion Envenomation	Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia	ORPHA:466677
Abnormal Hair, Joint Laxity, And Developmental Delay	Joint hypermobility, Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, High palate, Pulmonary arterial hypertension, Tricuspid reg...	OMIM:614437
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Gastroesophageal reflux, Hiatus hernia, Hypertension, Card...	ORPHA:3342
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism, Short stature	OMIM:275120
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Pulmonary arterial hypertension, Hypop...	ORPHA:667
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Arthrogryposis multiplex congenita, Esophageal atresia, Congenital pylo...	OMIM:226730
Reynolds Syndrome	Gastroesophageal reflux, Arthritis, Abnormal gastric mucosa morphology, Telangiectasia of the ski...	ORPHA:779
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Distal renal tubular acidosis, Diaphyseal sclerosis	OMIM:259730
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Difficulty walking, Gastroesophageal reflux, Small intestinal dysmotility, ...	OMIM:619482
Cleidocranial Dysplasia 1	Narrow palate, High, narrow palate, Delayed pubic bone ossification, Increased bone mineral densi...	OMIM:119600
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Penoscrotal...	OMIM:618280
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ectopic anus, Anal atresia, Pyloric stenosis, Camptodactyly of finger, Renal...	ORPHA:3138
Bardet-Biedl Syndrome	Impaired fasting glucose, Abnormality of the endocrine system, Hypoplasia of the ovary, Hypothyro...	ORPHA:110
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Protruding tongue	ORPHA:50945
Apert Syndrome	Narrow palate, Limited elbow movement, Lambdoidal craniosynostosis, Esophageal atresia, Craniosyn...	OMIM:101200
Retinitis Pigmentosa	Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix, Portal hypertension	OMIM:620367
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia...	ORPHA:980
Marden-Walker Syndrome	Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hydroureter, Dextroc...	ORPHA:2461
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Renal tubular acidosis, Hypocalcemia, High palate, Elevated circulating creatine k...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures, Femur fracture	OMIM:612301
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Multiple bladder diverticula, Abnormal cardiac ventricular function, Ve...	ORPHA:90349
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro...	OMIM:220111
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Elevated circulating creatine kinase concentration, Congenital pyloric atre...	ORPHA:158684
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega...	OMIM:608594
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Dysphagia, Bradycardia	OMIM:617248
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Esophageal Atresia	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Laryngotr...	ORPHA:1199
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Hypospadias, Hyperuricemia, Renal insufficiency, Arthritis, Pyloric stenosis...	ORPHA:93111
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Hepatoblastoma, Thickened cortex of ...	OMIM:269150
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Holt-Oram Syndrome	Cervical C2/C3 vertebral fusion, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ve...	OMIM:142900
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega...	OMIM:269700
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Tracheomalaci...	OMIM:613177
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Elevated circulating C-r...	ORPHA:91500
Viss Syndrome	Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina...	ORPHA:79403
Duplication Of The Pituitary Gland	Short stature, Abnormal hypothalamus morphology, Abnormal pituitary gland morphology	ORPHA:314621
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Patent foramen ovale, Right bundle branch block, High palate, Camptodactyly...	OMIM:617402
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Postnatal growth retarda...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Postnatal growth retarda...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Postnatal growth retarda...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Postnatal growth retarda...	ORPHA:99226
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con...	ORPHA:64
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol...	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

X-ray

Gross Pathology and Tissue Collection

Immunophenotyping

Human diseases caused by Trh mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data