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Gene: Myh11 MGI:102643

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myosin, heavy polypeptide 11, smooth muscle

Synonyms:

SM1, SM2, smMHC

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myh11 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 Myh11 (6 diseases)
Human diseases predicted to be associated with Myh11 (1048 diseases)

The table below shows human diseases associated to Myh11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ...	OMIM:619350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Microcolon, Anuria, Megacystis, Ileal atre...	OMIM:619351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Nausea...	ORPHA:2241
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function, Patent ductus ar...	OMIM:132900
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus	ORPHA:229
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387

The table below shows human diseases predicted to be associated to Myh11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:606685
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyp...	ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy, Decrease...	OMIM:203400
Early-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyp...	ORPHA:556030
Cardiomyopathy, Dilated, 1Ff	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613286
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gast...	OMIM:611376
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ...	OMIM:619350
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,...	OMIM:304800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist...	OMIM:619365
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Myopathy, Abnormal intestine mo...	ORPHA:977
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Adrenal insufficiency, Increased circulating renin leve...	ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Cardiomyopathy, Dilated, 3B	Increased circulating creatine kinase MB isoform, Dilated cardiomyopathy, Increased left ventricu...	OMIM:302045
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoa...	OMIM:177735
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Decreased body weight, Hematuria, Acute tubu...	ORPHA:340
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Vomiting, Decreased cir...	ORPHA:79159
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Microcolon, Anuria, Megacystis, Ileal atre...	OMIM:619351
Cardiomyopathy, Dilated, 2C	Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ...	OMIM:618189
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611615
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Nausea...	ORPHA:2241
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Gastroesophageal reflux, Intrauterine growth retardation, Decreased body ...	OMIM:618097
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Gitelman Syndrome	Hypotension, Hypocalciuria, Growth delay, Renal magnesium wasting, Failure to thrive, Enuresis, V...	OMIM:263800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Diarrhea, Anuria, Elevated circulating creatinine concentration, Hyperlipide...	OMIM:235400
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:616198
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Renal Tubular Dysgenesis	Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Acute kidney injury, Anuria, Gast...	ORPHA:544482
Acute Adrenal Insufficiency	Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Renal salt wastin...	ORPHA:95409
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Vomiting, Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium...	OMIM:241150
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Vomiting, Failure to thrive in infancy, Abnormal circulating aldosterone, Incr...	ORPHA:171876
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Oliguria, Renal insufficiency, Arrhythmia, Weight loss, Abnormal renal tub...	ORPHA:188
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megacolon, Arrhythmia, Ac...	ORPHA:3386
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Decreased circulating carnitine concentration	OMIM:611283
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Unconjugated hyperbilirubinemia, Bloody diarrhea...	ORPHA:90038
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal...	OMIM:155310
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Diarrhea, Third degree atrioventricular block...	OMIM:601419
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Micropenis, H...	OMIM:618815
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ...	ORPHA:97362
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Vom...	ORPHA:90791
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria, Cardiomyopathy	OMIM:613657
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, P...	OMIM:610198
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract...	OMIM:620152
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa...	OMIM:620300
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga...	ORPHA:1018
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypertension, ...	OMIM:612780
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention	ORPHA:2795
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium...	OMIM:601678
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Malonyl-Coa Decarboxylase Deficiency	Diarrhea, Elevated urine suberic acid level, Methylmalonic aciduria, Vomiting, Dilated cardiomyop...	OMIM:248360
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276575
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Dilated cardiomyopathy, Poor suck, Decreased body weight	OMIM:300580
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia	OMIM:615750
Brain-Lung-Thyroid Syndrome	Growth delay, Failure to thrive, Megacystis, Elevated circulating thyroid-stimulating hormone con...	ORPHA:209905
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Foot dorsiflexor weakness, Skeletal muscle atrophy, Urinary retention	OMIM:616586
Microcephaly-Cardiomyopathy Syndrome	Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Addison Disease	Diarrhea, Adrenal calcification, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparath...	ORPHA:85138
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:255160
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis	OMIM:619431
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ...	ORPHA:94080
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabe...	OMIM:615981
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycar...	ORPHA:49827
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal...	ORPHA:276556
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Mirage Syndrome	Gastroesophageal reflux, Hyperkalemia, Microphallus, Recurrent urinary tract infections, Intraute...	OMIM:617053
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concen...	ORPHA:206546
Sepsis In Premature Infants	Hypotension, Diarrhea, Oliguria, Vomiting, Decreased liver function, Functional abnormality of th...	ORPHA:90051
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Xerostomia, Gastroesophageal reflux, Skin ulcer, Congestive heart ...	ORPHA:220393
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomyopathy, Conge...	OMIM:608099
Cyclic Vomiting Syndrome	Vomiting, Cardiomyopathy, Pallor, Nausea, Gastrointestinal dysmotility, Anorexia, Abdominal pain,...	OMIM:500007
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c...	OMIM:616730
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Oliguria, Epistaxis, Erythema, Congestive hear...	ORPHA:727
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Hepatic failure, Oliguria, Decreas...	ORPHA:159
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Foix-Alajouanine Syndrome	Functional abnormality of the bladder, Urinary retention, Lower limb muscle weakness, Distal lowe...	ORPHA:79093
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Dilated cardiomyopathy, Nephrolithiasis, Elevated circulating creatine kinase concentra...	ORPHA:352447
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatin...	OMIM:618120
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Scleromyxedema	Gastroesophageal reflux, Transient ischemic attack, Elevated circulating creatine kinase concentr...	ORPHA:167635
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio...	ORPHA:90064
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Myopathy, Distal, 1	Left atrial enlargement, Dilated cardiomyopathy, Mildly elevated creatine kinase, Elevated circul...	OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604286
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
Fabry Disease	Nephropathy, Nausea and vomiting, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Anorexi...	ORPHA:324
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium...	OMIM:241200
Bartter Syndrome Type 4	Chronic kidney disease, Severe failure to thrive, Renal salt wasting, Acute kidney injury, Increa...	ORPHA:89938
Colchicine Poisoning	Hypotension, Diarrhea, Vomiting, Oliguria, Cardiogenic shock, Congestive heart failure, Hypomagne...	ORPHA:31824
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:300718
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Failure to thrive in infancy, Elbow flexion contracture, Vesicouretera...	ORPHA:85285
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear...	OMIM:602390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:612937
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Fatal Familial Insomnia	Weight loss, Urinary retention	OMIM:600072
Familial Visceral Myopathy	Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Aganglionic megacolon, A...	ORPHA:2604
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Achalasia	ORPHA:3239
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Elevated circulating creatine kin...	OMIM:255100
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra...	OMIM:616827
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor, Failure to thrive, Anorexia	ORPHA:79283
Familial Isolated Dilated Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:154
Porphyria, Acute Intermittent	Urinary retention, Paralytic ileus, Urinary incontinence, Elevated urinary delta-aminolevulinic a...	OMIM:176000
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, Slender build, Feeding difficulties in infancy, Dysphagia, Mildly elevate...	OMIM:161800
Gaisböck Syndrome	Nephrocalcinosis, Peptic ulcer, Hypernatriuria, Elevated diastolic blood pressure, Obesity, Incre...	ORPHA:90041
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm...	ORPHA:320
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Cholera	Hypovolemic shock, Acute kidney injury, Diarrhea, Vomiting, Hypotension, Abnormal blood ion conce...	ORPHA:173
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Elevate...	ORPHA:206559
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Pallor, Hyperinsul...	ORPHA:324575
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr...	OMIM:611705
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Pallor, Dysphagia	OMIM:613561
Dpm3-Cdg	Dilated cardiomyopathy, Elevated creatine kinase after exercise	ORPHA:263494
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive, Dilated cardi...	ORPHA:71212
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ...	OMIM:619167
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti...	ORPHA:79276
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Diarrhea, Vomiting, Hypotension, Heart block, Reduced left ventricular eject...	ORPHA:542323
Iatrogenic Botulism	Xerostomia, Urinary retention	ORPHA:254509
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Achalasia-Microcephaly Syndrome	Growth delay, Achalasia	ORPHA:929
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Constipa...	ORPHA:85447
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Increased circulating ferritin concentration, Hypogonadism, Abnormality o...	ORPHA:79230
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:34515
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Perimembranous...	OMIM:600987
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function,...	OMIM:618805
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypertension, Pulmonary arterial hypertension, Atrial septal defect, Hypo...	OMIM:613834
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Vomiting, Hypotensio...	ORPHA:85445
Rheumatic Fever	Epistaxis, Erythema, Abnormal heart valve morphology, Nausea and vomiting, Pallor, Abnormal mitra...	ORPHA:3099
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Inhalational Botulism	Xerostomia, Urinary retention	ORPHA:254504
Yellow Fever	Acute kidney injury, Diarrhea, Vomiting, Anuria, Shock, Reduced left ventricular ejection fractio...	ORPHA:99829
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Abdominal d...	OMIM:214700
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Hyperprolin...	OMIM:619003
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Mildly elevated creatine kinase, Feeding difficulties, Dilated cardiomyo...	ORPHA:171442
Cardiac Lipidosis, Familial	Death in infancy, Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiogenic Shock	Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ...	ORPHA:97292
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertensio...	ORPHA:401923
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Vomiting, Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentrat...	OMIM:600649
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Palpitations, Pallo...	ORPHA:276621
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur...	OMIM:620609
Lujo Hemorrhagic Fever	Hypotension, Diarrhea, Oliguria, Vomiting, Subconjunctival hemorrhage, Shock, Renal insufficiency...	ORPHA:319213
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Fulminant hepatic fai...	OMIM:231530
Spinal Cord Injury	Paralytic ileus, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Tetrasomy 18P	Syncope, Achalasia	ORPHA:3307
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Lassa Fever	Diarrhea, Oliguria, Shock, Nausea and vomiting, Abdominal pain, Dysphagia, Miscarriage	ORPHA:99824
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong...	OMIM:609015
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Isolated Atp Synthase Deficiency	Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonem...	ORPHA:254913
Triple A Syndrome	Short stature, Adrenal insufficiency, Achalasia, Anterior hypopituitarism	ORPHA:869
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:99901
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Botulism	Xerostomia, Urinary retention	ORPHA:1267
Wound Botulism	Urinary retention	ORPHA:178475
Autosomal Recessive Spastic Paraplegia Type 9B	Pollakisuria, Urinary retention, Skeletal muscle atrophy	ORPHA:447760
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Ureterocele, Urinary retention, Rec...	ORPHA:79404
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Pallor, Isothenuria, Hypokale...	OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, D...	OMIM:611126
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Hypercalcemia, Nephrol...	OMIM:143880
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Death in childhood, Death in infancy, Reduced systolic function, Ebstein ...	OMIM:619492
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Foodborne Botulism	Xerostomia, Urinary retention	ORPHA:228371
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Small for gestational age, Neonatal death	OMIM:300076
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia, Nausea, C...	OMIM:615084
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia	ORPHA:2400
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Achalasia, Decreased response to growth hormone stimulation test	ORPHA:436174
Leprechaunism	Megarectum, Nephrocalcinosis, Long penis, Abdominal distention, Failure to thrive, Central hypoth...	ORPHA:508
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal...	ORPHA:26793
Polyarteritis Nodosa	Erythema, Skin ulcer, Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Ray...	ORPHA:767
Solitary Fibrous Tumor	Weight loss, Urinary retention	ORPHA:2126
Deafness, Congenital, With Vitiligo And Achalasia	Short stature, Achalasia	OMIM:221350
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py...	ORPHA:1349
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:2229
Muscular Dystrophy, Cardiac Type	Carnosinuria, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG	OMIM:309930
Dk1-Cdg	Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I...	ORPHA:91131
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Posterior Column Ataxia With Retinitis Pigmentosa	Urinary incontinence, Achalasia, Recurrent urinary tract infections	OMIM:609033
Thyrotoxic Periodic Paralysis	Urinary retention, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Decreased urinary potassi...	ORPHA:79102
Macdermot-Winter Syndrome	Hydronephrosis, Camptodactyly of finger	OMIM:247990
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula...	OMIM:614096
Adrenomyeloneuropathy	Leg muscle stiffness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lower limb...	ORPHA:139399
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy, Dysphagia, Failure to thrive, Feeding difficulties	OMIM:255310
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cardiomyocyte hypertrophy, D...	OMIM:605676
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:252011
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Death in early adulthood, Achalasia, Dysphagia	ORPHA:79107
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Palpitations, Pallo...	ORPHA:29072
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D...	ORPHA:280679
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Failure to thrive, Cardiomyopathy, Intrauterine growth retardation, Renal...	ORPHA:324525
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Dystonia-Deafness Syndrome 1	Dysphagia, Achalasia, Small for gestational age, Pseudobulbar paralysis	OMIM:607371
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca...	OMIM:616963
Immunodeficiency 70	Celiac disease, Colitis, Achalasia	OMIM:618969
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Vomiting, Diarrhea, Failure ...	OMIM:610768
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu...	OMIM:619482
Myopathy, Centronuclear, 5	Abnormal circulating creatine kinase concentration, Dilated cardiomyopathy, Mitral regurgitation	OMIM:615959
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir...	OMIM:300539
Barth Syndrome	Dilated cardiomyopathy, Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio, Conges...	OMIM:302060
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Decreased response to growth hormone stimulation test, Intrau...	OMIM:609053
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Renal agenesis, Congestive heart failure, Mitral re...	ORPHA:2326
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsuline...	ORPHA:276608
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal cyst, Small thenar eminence...	OMIM:613390
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Failure to thrive, Car...	OMIM:615895
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Xerostomia, Anteriorly place...	OMIM:604292
Melas	Nephropathy, Erythema, Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Hypopa...	ORPHA:550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Feeding difficulties in infancy, Arrhythmia, Polycystic kidney dysplasia, Renal dysplas...	OMIM:608836
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Achalasia, Dysphagia	ORPHA:289483
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Large for gestational age, Hyperinsulinemia, Pallor, Hypophosphat...	ORPHA:263455
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt...	OMIM:300845
Andersen-Tawil Syndrome	Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular...	ORPHA:37553
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Abnormal urinary color, Pallor, Tachycardia	ORPHA:90037
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circul...	OMIM:218030
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ur...	OMIM:618845
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Dilated cardiomyopathy, Abnormal left ventricular function, Eleva...	OMIM:607155
Congenital Myopathy 19	Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Hydronephrosis, Facial hypotonia,...	OMIM:618578
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Abnormal intestine morphology, Hypot...	OMIM:615952
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Liddle Syndrome 1	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:177200
Methylmalonic Aciduria, Cblb Type	Vomiting, Ketonuria, Methylmalonic aciduria, Failure to thrive, Dilated cardiomyopathy, Elevated ...	OMIM:251110
Ethylene Glycol Poisoning	Hypotension, Vomiting, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal ...	ORPHA:31826
Propionic Acidemia	Organic aciduria, Cardiomyopathy, Hyperammonemia, Arrhythmia, Constipation	ORPHA:35
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia	ORPHA:195
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Achalasia-Addisonianism-Alacrima Syndrome	Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le...	OMIM:231550
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Vomiting, Dilated cardiomyopathy, Ventricular septal defect, Hydron...	OMIM:614921
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Urinary retention	ORPHA:79124
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Feeding dif...	OMIM:264350
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Vomiting, Oliguria, Hepatic failure, Decreased liver function, Hypotension, ...	ORPHA:466650
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Benign Paroxysmal Torticollis Of Infancy	Vomiting, Pallor	ORPHA:71518
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Heart murmur	ORPHA:1054
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro...	ORPHA:90324
Acute Monoblastic/Monocytic Leukemia	Weight loss, Central hypothyroidism, Oliguria, Anorexia	ORPHA:514
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Partial atr...	OMIM:615996
Neutrophilic Dermatosis, Acute Febrile	Erythema, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentration, Pyoderma...	OMIM:608068
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Feeding difficulties in infancy, Tachycardia, Methylma...	OMIM:277400
Bohring-Opitz Syndrome	Congenital contracture, Urinary retention, Nephroblastoma, Severe failure to thrive, Facial hypot...	ORPHA:97297
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets...	OMIM:208000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Vomiting, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Death in infancy	OMIM:614299
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Decreased liver func...	ORPHA:367
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Li-Campeau Syndrome	Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, Hypothyroidism, Mi...	OMIM:619189
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Gm1-Gangliosidosis, Type I	Severe short stature, Abnormality of the urinary system, Dilated cardiomyopathy, Congestive heart...	OMIM:230500
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Left ve...	OMIM:613426
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Volvulus, Recurrent urinary tract i...	ORPHA:2970
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Hypotension, Diarrhea, Ketonuria, Dilated cardiomyopathy, Pallor, Hype...	ORPHA:20
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve...	OMIM:620519
Amyloidosis, Finnish Type	Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear...	OMIM:105120
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,...	ORPHA:75566
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular ventricular se...	ORPHA:66634
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Abnormal h...	ORPHA:79327
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Pallor, Cardiomegaly, Glomerulonephritis, Heart m...	ORPHA:99931
Spontaneous Periodic Hypothermia	Arrhythmia, Diarrhea, Nausea and vomiting, Pallor	ORPHA:29822
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Growth delay,...	ORPHA:89842
Snakebite Envenomation	Epistaxis, Acute kidney injury, Neuromuscular dysphagia, Vomiting, Diarrhea, Hypotension, Pseudob...	ORPHA:449285
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy, Mildly elevated creatine kinase	ORPHA:59135
Beta-Thalassemia	Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Hypogonadotropic hypogonadism, Abnormality of ir...	ORPHA:848
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Arthrogryposis multiplex congenita,...	OMIM:618265
Muscular Dystrophy, Becker Type	Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG	OMIM:300376
Congenital Muscular Dystrophy, Fukuyama Type	Intrauterine growth retardation, Dilated cardiomyopathy	ORPHA:272
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Dominant Beta-Thalassemia	Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hypopituitarism, Adre...	ORPHA:231226
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Elevated circulat...	OMIM:310200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Abdominal dis...	OMIM:619362
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Elevated urinary 3-methylcroto...	OMIM:246450
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Melena, Lack of bowel sounds...	ORPHA:100080
Aapoaiv Amyloidosis	Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm...	ORPHA:439232
Intellectual Developmental Disorder, Autosomal Dominant 54	Urinary retention, Small for gestational age	OMIM:617799
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Weight ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Weight ...	ORPHA:100082
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Obesity, Increased LDL...	ORPHA:98855
Adult-Onset Autosomal Dominant Leukodystrophy	Flexion contracture, Urinary urgency, Urinary retention, Recurrent urinary tract infections	ORPHA:99027
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Retinitis Pigmentosa 51	Obesity, Pallor, Abnormality of the kidney	OMIM:613464
Primary Lateral Sclerosis, Juvenile	Dysphagia, Pallor, Pseudobulbar paralysis	OMIM:606353
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ...	ORPHA:231580
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Recurrent urinary t...	ORPHA:90349
Acute Myelomonocytic Leukemia	Weight loss, Pallor	ORPHA:517
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,...	OMIM:613845
Acute Transverse Myelitis	Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lowe...	ORPHA:139417
Glucocorticoid Deficiency 2	Increased circulating ACTH level, Decreased circulating cortisol level, Achalasia, Abnormal circu...	OMIM:607398
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Death in c...	OMIM:560000
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension	ORPHA:3222
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c...	OMIM:613824
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Tachycardia, Pallor, Abnormal urinary color	ORPHA:90036
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Dilated cardiomyopathy, Failure to thrive, Goiter, Gastroparesis, Reduce...	ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ...	OMIM:610505
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septa...	OMIM:249270
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Beta-Ketothiolase Deficiency	Hypotension, Diarrhea, Vomiting, Ketonuria, Pallor, Hyperammonemia, Hyperuricemia, Weight loss, A...	ORPHA:134
Prune Belly Syndrome	Xerostomia, Hydroureter, Hydronephrosis, Anal atresia, Aplasia of the abdominal wall musculature,...	OMIM:100100
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai...	ORPHA:73224
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Hypergo...	OMIM:212112
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe...	ORPHA:90795
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Failure to thrive, Urethral stricture, Short stature, Chronic diarrhea, E...	OMIM:613989
Parkes Weber Syndrome	Abnormality of the urinary system, Urinary retention, Lower limb muscle weakness, Muscle hypertro...	ORPHA:90307
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Sheehan Syndrome	Dry skin, Central adrenal insufficiency, Decreased serum estradiol, Obesity, Palpitations, Pallor...	ORPHA:91355
Familial Glucocorticoid Deficiency	Diarrhea, Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroep...	ORPHA:361
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:602541
Beta-Thalassemia Major	Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hypopituitarism, Adre...	ORPHA:231214
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Carnitine Deficiency, Systemic Primary	Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardio...	OMIM:212140
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Failure to thrive, Biventricular hypertrophy, Coronary artery fistula, Co...	OMIM:619343
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Disproportionate short-limb ...	OMIM:616541
Orofaciodigital Syndrome Xv	Hydronephrosis, Lobulated tongue	OMIM:617127
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Ectopic Aldosterone-Producing Tumor	Epistaxis, Renal cortical adenoma, Decreased circulating renin level, Hypokalemia, Nausea, Hypert...	ORPHA:231632
Neonatal Lupus Erythematosus	Hepatic failure, Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnor...	ORPHA:398124
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Hypoplastic left...	OMIM:617661
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Bundle branch block, Obesity, Encopresis, Decreased body weigh...	ORPHA:589821
Alstrom Syndrome	Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure,...	OMIM:203800
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections	OMIM:619218
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Achalasia, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Feedin...	OMIM:615510
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Hypotaurinemia, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Hemoglobin D Disease	Abdominal pain, Pallor	ORPHA:90039
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Feeding diffi...	ORPHA:1199
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Nausea ...	ORPHA:100075
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Acute kidney injury, Oliguria, Growth delay, Gastrointestinal hemorrh...	ORPHA:731
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog...	ORPHA:85443
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Achalasia, Familial Esophageal	Xerostomia, Achalasia	OMIM:200400
Cold Agglutinin Disease	Diarrhea, Nausea and vomiting, Pallor, Abnormal urinary color	ORPHA:56425
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Pallor, Elevated urinary ...	ORPHA:892
Beta-Thalassemia Intermedia	Proximal tubulopathy, Skin ulcer, Decreased liver function, Hypogonadism, Adrenal insufficiency, ...	ORPHA:231222
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Vomiting, Diarrhea, Dilated cardiomyopathy, Death in childhood, Left ventricular hypert...	OMIM:618321
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Leishmaniasis	Hypoalbuminemia, Skin ulcer, Pallor, Weight loss, Anorexia	ORPHA:507
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Pallor	ORPHA:75563
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Nausea ...	ORPHA:90045
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Reduced haptoglobin level, Elevated circulating creatine ...	OMIM:300842
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Telangiecta...	OMIM:616007
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Ketonuria, Failure to thrive, Methylmalonic aciduria, Pulmonary embolism,...	ORPHA:79282
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Postnatal growth retardation, Intrauterine growth retardation, Prot...	ORPHA:2728
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Slender build, Cachexia, Facial palsy	ORPHA:1328
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Myopathy	ORPHA:2571
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Failure to thri...	ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Achalasia	OMIM:300858
Multiple Endocrine Neoplasia Type 2	Diarrhea, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine level, Parathyro...	ORPHA:653
Optic Atrophy 1	Pallor	OMIM:165500
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Erythema, Hepatic failure, Vomiting, Type I diabetes mellitus, Failure...	OMIM:557000
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Failure to thrive, Hydronephrosis, High palate, Small for gestational age	OMIM:609757
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria	OMIM:278300
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic acidur...	OMIM:212138
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Re...	ORPHA:2973
Hb Bart'S Hydrops Fetalis	Pallor, Pericarditis, Congestive heart failure	ORPHA:163596
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Ileal Neuroendocrine Tumor	Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ...	ORPHA:100078
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Imerslund-Gräsbeck Syndrome	Vomiting, Failure to thrive, Pallor, Proteinuria, Weight loss, Constipation, Tachycardia, Poor ap...	ORPHA:35858
Evans Syndrome	Epistaxis, Syncope, Pallor, Petechiae	ORPHA:1959
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hepatic failure, Hypotension...	ORPHA:97287
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Feeding difficulties in infancy, Macroscopi...	OMIM:248250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Cardiac ...	ORPHA:255210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Intrauterine growth retardation, Esophagitis, Elevated circulating creatine kinase concentration,...	OMIM:615356
Breath-Holding Spells	Pallor	OMIM:607578
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulati...	OMIM:618183
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Pallor, Abnormal urinary color	ORPHA:90033
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Rectal abscess	OMIM:600145
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Arterial Tortuosity Syndrome	Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo...	ORPHA:3342
Ohdo Syndrome, Sbbys Variant	Hypothyroidism, Dilated cardiomyopathy, Hypospadias, Feeding difficulties	OMIM:603736
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Increased urinary glycerol, Pallor, Hyperuricemi...	ORPHA:348
Noonan Syndrome 8	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ...	OMIM:615355
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Second degree atrioventricular block, Decreased liver function, Intrauterine gro...	OMIM:617021
Bardet-Biedl Syndrome 17	Hypogonadism, Obesity, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyur...	OMIM:615994
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria	OMIM:222100
Primary Myelofibrosis	Portal hypertension, Pallor, Petechiae, Ecchymosis, Cachexia, Anorexia, Purpura	ORPHA:824
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Myopathic Ehlers-Danlos Syndrome	Mildly elevated creatine kinase, Pallor, Failure to thrive	ORPHA:536516
Obesity-Hypoventilation Syndrome	Hypoventilation	OMIM:257500
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Female hypogonadism, Male hy...	ORPHA:91349
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Hereditary Spherocytosis	Restrictive cardiomyopathy, Skin ulcer, Hyperbilirubinemia, Pallor, Abdominal distention, Abdomin...	ORPHA:822
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re...	ORPHA:79403
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Hydroxykynureninuria	Hypotension, Dry skin, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Tac...	ORPHA:79155
Central Hypoventilation Syndrome, Congenital, 1	Ineffective esophageal peristalsis, Decreased heart rate variability, Chronic constipation, Agang...	OMIM:209880
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Renal tubular ac...	OMIM:614922
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Cardiomyopathy, Anorexia, Abnor...	ORPHA:2131
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis, Limb hypertonia, High palate, Cleft palate	ORPHA:488613
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Hepatic failure, Failure to thrive, Hyperbiliru...	OMIM:606812
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Vici Syndrome	Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Postnatal gr...	OMIM:242840
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart failure, Malabsorp...	ORPHA:33226
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased total iron binding capacity, Hyperbilirubinem...	ORPHA:98870
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstruction	ORPHA:873
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Skin ulcer, Portal hypertension, Ha...	OMIM:615688
Glycogen Storage Disease Iv	Hepatic failure, Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentr...	OMIM:232500
Relapsing Fever	Epistaxis, Acute kidney injury, Diarrhea, Abnormality of the urinary system, Vomiting, Hypotensio...	ORPHA:91547
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esophageal atresia, ...	OMIM:314390
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Congenital diaphragmatic hernia, Re...	ORPHA:1834
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gastroparesis, Dilated cardiomyopathy, Intestinal pseudo-obstruction	ORPHA:70595
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Increased circulating ferritin concentration, Hypopituitarism, Pallor, Delayed...	OMIM:600462
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatic failure, Red-brown urine, Elevated circulating acylcarnitine con...	ORPHA:228305
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting...	ORPHA:91347
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive	OMIM:613735
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Vomiting, Small bowel diverticula, Congestive he...	ORPHA:90348
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Weight loss, Nausea and vomiting, Pallor	ORPHA:3226
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Dilated cardiomyopathy, Secretory diarrhea, Necrotizing ente...	OMIM:619573
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria...	OMIM:145600
Trisomy 17P	Skeletal muscle atrophy, Flexion contracture, Hydronephrosis, High palate, Macroglossia, Hypoplas...	ORPHA:261290
Anemia, Congenital Dyserythropoietic, Type Ib	Short stature, Growth delay, Pallor	OMIM:615631
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydronephrosis, Anal atresia, T...	OMIM:620511
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Multiple bladder diverticula, Redundant skin, Right ventricular hypertro...	OMIM:613177
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Pallor, Elevated hepatic iron concent...	OMIM:615234
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr...	OMIM:300048
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Meningococcal Meningitis	Hypotension, Shock, Renal insufficiency, Petechiae, Increased circulating procalcitonin concentra...	ORPHA:33475
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618126
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Failure to thrive, Hypertrophic cardiomyopathy, Gastroparesis, Intrauterine growth r...	OMIM:614052
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased liver function, Intrauterine growth retardation, Death in infancy, Neon...	OMIM:618839
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,...	ORPHA:2473
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis, Mitral regurgitation, Mitra...	OMIM:607459
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Obesity Due To Sim1 Deficiency	Hypotension, Obesity, Postural hypotension with compensatory tachycardia, Hyperinsulinemia	ORPHA:369873
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Cutaneous Mastocytoma	Erythema, Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Nausea, Te...	ORPHA:79455
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Diabetic Embryopathy	Renal hypoplasia/aplasia, Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, M...	ORPHA:1926
Joubert Syndrome 37	Hydronephrosis, Obesity, Micropenis, High palate	OMIM:619185
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Renal hypopl...	ORPHA:2461
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype...	OMIM:611489
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Joint contracture of the hand, Camptodactyly	OMIM:179613
Irida Syndrome	Abnormal intestine morphology, Decreased circulating copper concentration, Pallor	ORPHA:209981
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydronephrosis, Micropenis, Flexion contracture, Hypospadias, Small for gestational age, Cleft pa...	OMIM:616897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Idiopathic Hypereosinophilic Syndrome	Vomiting, Pulmonary embolism, Failure to thrive, Dilated cardiomyopathy, Congestive heart failure...	ORPHA:3260
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Facial hypotonia, Hydronephrosis, Micropenis, Abnormality of muscle size, Narrow p...	ORPHA:364028
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr...	ORPHA:314588
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Abnorm...	OMIM:227650
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Chromosome 5Q12 Deletion Syndrome	Hypotension, Decreased body mass index, Postnatal growth retardation, Patent foramen ovale, Ventr...	OMIM:615668
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Skin vesicle, Elevated circulating C...	ORPHA:3243
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Anemic...	OMIM:600901
Williams Syndrome	Death in early adulthood, Nausea and vomiting, Mitral regurgitation, Mitral valve prolapse, Ventr...	ORPHA:904
Prolactinoma	Secondary growth hormone deficiency, Hypotension, Vomiting, Male hypogonadism, Adrenocorticotropi...	ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in ...	OMIM:618835
Plummer-Vinson Syndrome	Pallor, Decreased circulating ferritin concentration, Esophageal web, Abdominal pain, Dysphagia, ...	ORPHA:54028
Legionnaires Disease	Hypotension, Diarrhea, Renal insufficiency, Nausea and vomiting, Hematuria, Proteinuria, Arrhythm...	ORPHA:549
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, Cardiomyopathy, Stage 5 chronic ki...	OMIM:251000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Arthrogryposis multiplex congenita, Vesicoureteral reflux, Hydronephrosis, Micropenis...	OMIM:301056
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Gastroesophageal reflux, Diarrhea, Failure to thrive, Increased circulating prolacti...	ORPHA:35708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transposition of the ...	OMIM:253800
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Hydronephrosis, Neurogenic bladder, Hypothyroidism, Dysphagia, Testi...	OMIM:222300
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypernatriuria, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati...	ORPHA:887
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, High palate, Cleft palate	OMIM:602418
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyperphosphatur...	OMIM:239200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Large for gestational age, Vesicoureteral reflux, Congenital diaphragmatic hernia,...	OMIM:614080
Williams-Beuren Syndrome	Mitral regurgitation, Chronic constipation, Ventricular septal defect, Mitral valve prolapse, Bic...	OMIM:194050
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
Suleiman-El-Hattab Syndrome	Hydronephrosis, High palate, Failure to thrive	OMIM:618950
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Supravalvular aortic stenosis, Redundant skin, Bladder diverticulum, Cutis ...	OMIM:219100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Pallor, Decreased glucose-6-phosphate dehydrogenase level in blo...	OMIM:300908
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Abnormal penis morphology, Erythema, Dilated cardiomyopathy, Growth delay, ...	ORPHA:2556
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Renal ...	OMIM:227646
Tetraploidy	Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3305
Lower Urinary Tract Obstruction, Congenital	Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Intrauterine growth retardation, Con...	ORPHA:73246
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus, Hydrone...	OMIM:618494
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit...	ORPHA:2842
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Mercury Poisoning	Acute kidney injury, Hypotension, Hypokalemia, Episodic abdominal pain, Episodic vomiting, Anorex...	ORPHA:330021
1P36 Deletion Syndrome	Abnormal intestine morphology, Telangiectasia, Feeding difficulties in infancy, Abnormality of th...	ORPHA:1606
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disease, Wolff-Parkinson-White synd...	OMIM:619705
Tetrasomy 15Q26	Horseshoe kidney, High palate, Camptodactyly, Hydronephrosis	OMIM:614846
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Dysphagia, Feeding diffi...	ORPHA:261250
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Intestinal malrotatio...	ORPHA:210122
ERI1-related disease	Failure to thrive, Velopharyngeal insufficiency, Vesicoureteral reflux, Decreased body weight, Hy...	OMIM:608739
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Myopathy, Gloss...	ORPHA:1358
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:119
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Myoglobinuria, Arrhythmia, Tubulointerstitial nephritis, Polycystic kidney...	ORPHA:228308
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola...	OMIM:102200
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger	OMIM:620141
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Diarrhea, Vomiting, Recurrent urinary tract infections, Shock, Elev...	ORPHA:36234
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Hyperbilirubinemia, Ventricular septal defect,...	OMIM:619488
Multiple Osteochondromas	Urinary retention, Intestinal obstruction	ORPHA:321
Helix Syndrome	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Xerostomia, Dry skin, Renal insufficiency, N...	OMIM:617671
Childhood Absence Epilepsy	Urinary incontinence, Pallor	ORPHA:64280
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Tracheoesophageal fistula, ...	ORPHA:2437
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Anal atresia, Hypospadias, Cleft palate	OMIM:220210
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Late-Onset Isolated Acth Deficiency	Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Celiac diseas...	ORPHA:199299
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
22Q11.2 Duplication Syndrome	Hydronephrosis, Urethral stenosis, Cleft palate, Displacement of the urethral meatus	ORPHA:1727
Trisomy 13	High, narrow palate, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephros...	ORPHA:3378
Small Cell Carcinoma Of The Bladder	Hematuria, Dysuria, Recurrent urinary tract infections	ORPHA:284400
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Dysphagi...	OMIM:219800
Tarp Syndrome	Meckel diverticulum, Failure to thrive, Horseshoe kidney, Neonatal death, Hydronephrosis, High pa...	OMIM:311900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Diarrhea, Hypotension, Pallor, Nausea, Weight loss, Syncope, Abdominal pain, Tachyc...	ORPHA:98849
Occipital Horn Syndrome	Ureteral obstruction, Redundant skin, Hydronephrosis, Bladder diverticulum, Hiatus hernia, Orthos...	OMIM:304150
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Organic aciduria, Intrauterine growth retardation, Pallor, Weight loss, Short stature, Increased ...	OMIM:301310
Webb-Dattani Syndrome	Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria	OMIM:615926
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Cardiomyopathy, Bundle branch bloc...	ORPHA:93672
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, ...	OMIM:611209
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Igg4-Related Aortitis	Hydronephrosis, Weight loss, Intestinal obstruction	ORPHA:449400
Duane-Radial Ray Syndrome	Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed...	OMIM:607323
Congenital Myopathy 17	Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Myopathy, Hyd...	OMIM:618975
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Intrauterine growth retardation, ...	OMIM:227645
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anore...	ORPHA:100079
Scrub Typhus	Hypotension, Nausea and vomiting, Renal insufficiency, Myocarditis, Abdominal pain	ORPHA:83317
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Meckel diverticulum, Renal agene...	OMIM:115470
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydroneph...	ORPHA:261344
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria	ORPHA:95626
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Cardiomyopath...	ORPHA:157
Necrotizing Enterocolitis	Hypotension, Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Abnormal heart morphol...	ORPHA:391673
Acquired Idiopathic Sideroblastic Anemia	Pallor, Congestive heart failure	ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Intrauterine growth retardation, Elevated circulating creatine kinase concentrati...	OMIM:617713
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Johanson-Blizzard Syndrome	Failure to thrive, Anteriorly placed anus, Hydronephrosis, Anal atresia, Hypoplasia of penis, Hyp...	ORPHA:2315
Dravet Syndrome	Pallor	ORPHA:33069
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricu...	OMIM:612863
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Myopathy, Mitochondrial, And Ataxia	Increased circulating prolactin concentration, Pallor, Elevated circulating creatine kinase conce...	OMIM:617675
Feingold Syndrome Type 1	Nephritis, Duodenal atresia, Horseshoe kidney, Abnormal heart morphology, Multiple muscular ventr...	ORPHA:391641
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypernatriuria, Hyperaldosteronism, Decreased glomerular fil...	OMIM:602522
Transketolase Deficiency	Increased level of ribose in urine, Type I diabetes mellitus, Elevated circulating ribitol concen...	ORPHA:488618
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Feeding difficulties in infancy, Single ventric...	ORPHA:2299
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Primary adrenal insufficiency, Renal tubular...	OMIM:530000
Baller-Gerold Syndrome	Anteriorly placed anus, Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral r...	ORPHA:1225
Acro-Renal-Ocular Syndrome	Horseshoe kidney, Postnatal growth retardation, Crossed fused renal ectopia, Tetralogy of Fallot,...	ORPHA:959
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur...	ORPHA:79233
Fryns Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Vesicoureteral reflux, Congenital diaphragm...	ORPHA:2059
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Bladder diverticulum, Palmoplantar cutis laxa, Increased circulating androg...	ORPHA:2976
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Nausea and vomiting, Petechiae, Ce...	ORPHA:99828
Kleefstra Syndrome	Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Macr...	ORPHA:261494
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinen...	ORPHA:358
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Functional abnormality of the bladder, Decreased muscle mass, Horsesh...	ORPHA:2953
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor, Feeding difficulties	ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Feeding difficulties	OMIM:613839
Cocaine Intoxication	Hematuria, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia...	ORPHA:90068
Tyrosinemia, Type I	Acute hepatic failure, Glomerular sclerosis, Gastrointestinal hemorrhage, Hypertrophic cardiomyop...	OMIM:276700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Pallor, Increased circulating ferritin concentration	OMIM:194380
Zellweger Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis, High palate, Hypospadias, Pylori...	ORPHA:912
Laryngotracheoesophageal Cleft	Aspiration	ORPHA:2004
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal polypo...	ORPHA:329971
Pyruvate Kinase Deficiency Of Red Cells	Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Pallor, Reduced haptoglobin level	OMIM:266200
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkalemia, Dy...	ORPHA:94093
Koolen-De Vries Syndrome	High, narrow palate, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplicati...	ORPHA:96169
Bardet-Biedl Syndrome 12	Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia	OMIM:615989
Zaki Syndrome	Hydronephrosis, Congenital diaphragmatic hernia, Renal agenesis, High palate	OMIM:619648
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger	ORPHA:2083
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Increased HDL...	ORPHA:70591
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Tricuspid regurgitation, Mitral regurgitation, Bladder diverticulum, Cutis laxa, Patent ductus ar...	OMIM:614557
Syndromic Diarrhea	Dry skin, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Colitis, Atrial septa...	ORPHA:84064
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Palp...	ORPHA:2847
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Stromme Syndrome	Bilateral renal hypoplasia, Intestinal malrotation, Myopathy, Jejunal atresia, Hydronephrosis, St...	OMIM:243605
Refractory Anemia With Excess Blasts	Palpitations, Abnormal circulating albumin concentration, Anemic pallor, Abnormal circulating pro...	ORPHA:86839
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,...	ORPHA:416
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
3C Syndrome	High, narrow palate, Intestinal malrotation, Hydronephrosis, Ectopic anus, Anal atresia, Hypoplas...	ORPHA:7
Koolen-De Vries Syndrome	Narrow palate, Failure to thrive, Recurrent urinary tract infections, Vesicoureteral reflux, Hydr...	OMIM:610443
Microphthalmia, Syndromic 9	Severe short stature, Hypoplastic left atrium, Renal hypoplasia, Horseshoe kidney, Tetralogy of F...	OMIM:601186
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro...	OMIM:300707
Pfeiffer Syndrome Type 3	Horseshoe kidney, Intestinal malrotation, Vesicoureteral reflux, Hydronephrosis, High palate, Ana...	ORPHA:93260
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Failure to thrive	OMIM:609465
Wolfram Syndrome	Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male hypogonadism, C...	ORPHA:3463
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydro...	ORPHA:90794
Kury-Isidor Syndrome	Hydronephrosis, High palate	OMIM:619762
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Protruding tongue, Failure to thrive	OMIM:619179
Meacham Syndrome	Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly, Death in childho...	OMIM:608978
Post-Traumatic Pituitary Deficiency	Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased...	ORPHA:95619
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypotension, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Dry s...	ORPHA:428
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular hypertrophy, Right ventricular dilatation, Elevated circulating creatine kinase...	OMIM:253700
Mesomelia-Synostoses Syndrome	Hydronephrosis, High, narrow palate, Aplasia/Hypoplasia of the uvula	ORPHA:2496
Lysosomal Acid Lipase Deficiency	Diarrhea, Adrenal calcification, Nausea and vomiting, Fatal liver failure in infancy, Cachexia, W...	ORPHA:275761
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Hydroureter, Skeletal muscle atrophy, I...	OMIM:305620
Johanson-Blizzard Syndrome	Death in childhood, Ventricular septal defect, Atrial septal defect, Rectovaginal fistula, Hyposp...	OMIM:243800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dysphagia, Pallor	ORPHA:13
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Gastrointestinal hemorrhage...	OMIM:225400
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Feeding dif...	ORPHA:273
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Hydronephrosis, Micropenis, Camptodactyly, Hi...	OMIM:612513
46,Xy Sex Reversal 4	Ureteropelvic junction obstruction, Hydronephrosis, High palate, Anal atresia, Renal dysplasia, C...	OMIM:154230
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,...	ORPHA:2248
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Hypopituitarism, ...	ORPHA:91354
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Hydronephrosis, Dysuria	ORPHA:101000
Chromosome 1P36 Deletion Syndrome, Distal	Gastroesophageal reflux, Growth delay, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid v...	OMIM:607872
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Failure to thrive, Protruding tongue, Hydronephrosis, Neurogenic bladder	OMIM:608779
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Diamond-Blackfan Anemia 1	Renal hypoplasia, Failure to thrive, Congestive heart failure, Intrauterine growth retardation, P...	OMIM:105650
Carpenter Syndrome 1	Joint contracture of the hand, Hydroureter, Obesity, Hydronephrosis, Camptodactyly, High palate	OMIM:201000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangiectasia, Horseshoe...	OMIM:235510
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal tongue morphology	ORPHA:531151
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Growth delay, Renal agenesis, Horseshoe kidney, Abnormal heart morph...	ORPHA:124
Trisomy 20P	Camptodactyly of finger, Abnormality of the ureter, Hydronephrosis, Ectopic anus, Multiple renal ...	ORPHA:261318
Hyperekplexia 1	Aspiration	OMIM:149400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte...	OMIM:263200
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Duplicated colon, Anteriorly placed an...	OMIM:258040
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Failure to thrive, Furrowed tongue, Vesicoureteral reflux, Abnormal bladder morpholo...	ORPHA:453499
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Renal insufficiency...	OMIM:203300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis, Small for gestational age, Failure to thrive	OMIM:617093
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Failure to thrive, Protruding tongue, Hydronephrosis, High pa...	OMIM:214100
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Tay-Sachs Disease	Aspiration	OMIM:272800
Classical Ehlers-Danlos Syndrome	Vomiting, Gastroesophageal reflux, Arterial rupture, Striae distensae, Mitral regurgitation, Chro...	ORPHA:287
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Situs invers...	OMIM:267010
Hoxha-Aliu Syndrome	Hydronephrosis, High palate, Vesicoureteral reflux, Contracture of the proximal interphalangeal j...	OMIM:620662
Menkes Disease	Gastrointestinal hemorrhage, Dry skin, Intrauterine growth retardation, Malabsorption, Nausea and...	ORPHA:565
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Noonan Syndrome 4	Hydronephrosis, Ureteral duplication, Large for gestational age	OMIM:610733
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture, Limb hypertonia	OMIM:620327
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Failure to thrive, Duodenal at...	ORPHA:464311
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Hardikar Syndrome	Hyperbilirubinemia, Ventricular septal defect, Impaired growth-hormone response to glucagon stimu...	OMIM:301068
Arima Syndrome	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ...	OMIM:243910
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Malabsorption, Hyponatremia, Cachexia, Hypoth...	ORPHA:3452
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Camptodactyly of finger, Hydronephrosis, High pa...	ORPHA:261349
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Hydronephrosis, High palate, Hypospadias, Cleft palate	OMIM:616449
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Intestinal malrotation, Biventricular hypertr...	OMIM:618280
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Anteriorly placed anus, Distal urethral duplication,...	OMIM:146510
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Arterial rupture, Bladder diverticulum, Bicuspid aortic valve, Dextrocardia,...	ORPHA:536545
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i...	ORPHA:223
Kabuki Syndrome	Abnormal localization of kidney, Failure to thrive, Obesity, Crossed fused renal ectopia, Uretero...	ORPHA:2322
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Intestinal malrotation, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:208540
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Hydronephrosis, Wrist flexion contracture, Flexion contracture of finger, Campto...	ORPHA:254528
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Renal agenesis, Intestinal malrotation, Large...	OMIM:229850
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Joint con...	OMIM:618460
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Hydronephrosis, High palate, Arthrogryposis multi...	ORPHA:96061
Infant Botulism	Hypotension, Xerostomia, Hypertension, Hyponatremia, Constipation, Anorexia, Abdominal pain, Card...	ORPHA:178478
Mosaic Trisomy 9	Camptodactyly of finger, Horseshoe kidney, Intestinal malrotation, Hydronephrosis, Multiple renal...	ORPHA:99776
Mitochondrial Complex I Deficiency, Nuclear Type 32	Vomiting, Failure to thrive, Death in childhood, Hyponatremia, Patent urachus, Small for gestatio...	OMIM:618252
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis, High palate	ORPHA:1297
Developmental And Epileptic Encephalopathy 38	Aspiration	OMIM:617020
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis...	OMIM:617994
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Failure to thrive, Duodenal atresia, Multiple joint contr...	ORPHA:464306
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur...	ORPHA:64
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Intestinal malrotation, Cleft palate	ORPHA:457193
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor, Failure to thrive, Protracted diarrhea	ORPHA:331206
Vater/Vacterl Association	Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd...	OMIM:192350
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate...	ORPHA:97214
Microphthalmia, Lenz Type	Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias	ORPHA:568
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis, High palate	ORPHA:2510
1Q21.1 Microdeletion Syndrome	Failure to thrive, Ankyloglossia, Vesicoureteral reflux, Hydronephrosis, High palate	ORPHA:250989
15Q Overgrowth Syndrome	High, narrow palate, Bifid uvula, Ureterovesical stenosis, Contracture of the proximal interphala...	ORPHA:314585
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Facial wrinkling, Dry skin, Hype...	OMIM:606721
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Total anomalous pulmonary venous return, Ureteral stenosis, Atrial reentry tach...	OMIM:270100
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Hydronephrosis, Tracheoesophageal fistula, Anal atresia, Rectova...	ORPHA:1780
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, High palate	ORPHA:3079
Zttk Syndrome	Aortic regurgitation, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Intrauterin...	OMIM:617140
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Gly...	OMIM:600001
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypotension, Malnutrition, Scaling skin, Abdomin...	ORPHA:79456
Nipah Virus Disease	Hypotension, Nausea and vomiting, Anorexia	ORPHA:99825
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum	OMIM:617821
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Distal Deletion 12Q	High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Failure to thrive in...	ORPHA:96149
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Flexion contracture, High palate	ORPHA:35173
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Hepatic failure, Cardiomyopathy, Hyperammonemia, Myocarditis, Peric...	ORPHA:292
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Hellp Syndrome	Acute kidney injury, Vomiting, Hypotension, Increased body weight, Proteinuria, Nausea, Internal ...	ORPHA:244242
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Small hypothenar eminence, Abnormality of the urinary system, Contractures o...	ORPHA:96092
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Recurrent urinary tract infections, Myopathy, Hydronephrosis, Perianal abscess...	OMIM:612541
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Hydronephrosis, Aganglionic megacolon, Anal atresia, Rectovag...	OMIM:236700
Crimean-Congo Hemorrhagic Fever	Diarrhea, Nausea and vomiting, Retinal hemorrhage, Hematuria, Anorexia, Abdominal pain, Tachycard...	ORPHA:99827
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Feeding difficulties, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, ...	ORPHA:2255
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Renal agenesis, Ureterocele, Xerostomia, Vesicoureteral reflux, Hydronephrosis, Blad...	OMIM:129900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Calcino...	OMIM:617913
Pde4D Haploinsufficiency Syndrome	Hypotension, Elevated circulating parathyroid hormone level, Postnatal growth retardation, Obesit...	ORPHA:439822
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Malabsorption, Port...	ORPHA:98850
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Urinary bladder sphincter dysfunction, Hypertension, Hypothyroidism, Dysphagia, Poll...	ORPHA:93256
Serotonin Syndrome	Acute kidney injury, Diarrhea, Hepatic failure, Hypotension, Nausea, Tachycardia, Hypertension	ORPHA:43116
Genitopatellar Syndrome	Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Hydronephrosis, Arthrogr...	ORPHA:85201
Pelvis-Shoulder Dysplasia	Hydronephrosis, Microglossia, Cleft palate, Camptodactyly of finger	ORPHA:2839
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anteriorly placed anus, Obesity, Vesicoureteral reflux, Hydronephrosis, Micropenis, High palate, ...	OMIM:618653
Alg9-Cdg	Rhizomelia, Hypoplasia of the bladder, Diarrhea, Vomiting, Gastroesophageal reflux, Right ventric...	ORPHA:79328
Erythrocytosis, Familial, 2	Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Pulmonary arte...	OMIM:263400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Volvulus, Recurrent urinary tract infections, Hydronephrosis, Aganglionic megacolon, Abnormality ...	ORPHA:847
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hydronephrosis, Micropenis, High palate, Cleft palate	OMIM:235255
Letterer-Siwe Disease	Stomatitis, Pallor, Abdominal distention	OMIM:246400
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Anteriorly placed anus, Hydronephrosis, Aganglionic megacolon, High palate	ORPHA:247262
Trisomy 18	Narrow palate, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydronephrosis, Abnormal...	ORPHA:3380
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Malakoplakia	Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Proteinuria, N...	ORPHA:556
Takenouchi-Kosaki Syndrome	Hydronephrosis, Unilateral renal agenesis, Camptodactyly, Hypospadias	OMIM:616737
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Anal stenosis, Abnormal renal collecting system morpholo...	ORPHA:280633
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydroneph...	OMIM:618454
Pure Autonomic Failure	Urinary incontinence, Dysuria	ORPHA:441
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Crossed fus...	ORPHA:3097
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Dilatation of the renal pelvis, Failure to thrive, Vesicoure...	OMIM:616580
Otopalatodigital Syndrome Type 2	Failure to thrive, Camptodactyly of finger, Ureteral obstruction, Hydronephrosis, Glossoptosis, H...	ORPHA:90652
Myelofibrosis	Purpura, Pallor	OMIM:254450
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Intestinal malrotation, Micropenis, Duodenal atresia	OMIM:617798
Acute Radiation Syndrome	Hypotension, Vomiting, Diarrhea, Skin ulcer, Telangiectasia, Scaling skin	ORPHA:454831
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Duodenal atresia...	OMIM:306955
Erdheim-Chester Disease	Hydronephrosis, Weight loss, Dysuria, Renal insufficiency	ORPHA:35687
Marburg Hemorrhagic Fever	Diarrhea, Anorexia, Abdominal pain, Tachycardia, Shock, Elevated circulating creatinine concentra...	ORPHA:99826
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, High palate, Vesicoureteral reflux, Velopharyngeal insufficiency	OMIM:620663
Frontometaphyseal Dysplasia	Bifid uvula, Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint ...	ORPHA:1826
Patent Urachus	Recurrent urinary tract infections, Cystocele, Abdominal pain, Patent urachus, Congenital posteri...	ORPHA:431341
Intellectual Developmental Disorder, Autosomal Dominant 42	Failure to thrive, Lower limb muscle weakness, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:616973
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Male urethral meatus stenosis, Furrowed tongue, Contracture of the proximal ...	ORPHA:464738
Raine Syndrome	Hydroureter, Protruding tongue, Neonatal death, Hydronephrosis, High palate, Arthrogryposis multi...	OMIM:259775
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis, Knee flexion contracture	OMIM:620454
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Camptodactyly of finger, Horseshoe kidney, Diastasis recti, Congeni...	ORPHA:2092
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Protruding tongue, Hydronephrosis, Micropenis, Macroglossia, Hypospadias	OMIM:301040
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Esophagitis, Hydronephrosis	ORPHA:541423
Opitz Gbbb Syndrome	Abnormality of the urinary system, Ankyloglossia, Vesicoureteral reflux, Congenital diaphragmatic...	ORPHA:2745
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation	OMIM:618232
Teebi-Shaltout Syndrome	High, narrow palate, Ureteral stenosis, Horseshoe kidney, Hydronephrosis, Camptodactyly, Cleft pa...	OMIM:272950
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Failure to thrive	ORPHA:2995
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hydronephrosis, Abnormal renal morphology, Micropenis, High palate	ORPHA:1655
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Obesity, Congenital diaphragmatic hernia, Hydronephrosis,...	ORPHA:96121
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Failure to thrive, Ureteropelvic junction obstruction, Hydronephrosis, Li...	ORPHA:444072
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Abnormal right ventricular function, ...	ORPHA:3427
Hennekam-Beemer Syndrome	Erythema, Hypotension, Vomiting, Failure to thrive, Skin vesicle, Arrhythmia, Telangiectasia of t...	ORPHA:2135
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Teratoma, Pineal	Polyuria	OMIM:273120
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Hydronephrosis, Anal atresia, Renal dysplasia, Cleft palate	OMIM:300968
Amyotrophic Lateral Sclerosis 21	Aspiration	OMIM:606070
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogryposis, Facial hypotonia, High...	OMIM:617557
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Failure to thrive	OMIM:302960
Tarp Syndrome	Failure to thrive, Horseshoe kidney, Hydronephrosis, Abnormal duodenum morphology, Glossoptosis, ...	ORPHA:2886
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Hyperl...	ORPHA:565612
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypospadias, Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating deh...	OMIM:201750
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, High palate, Ureteral triplication	OMIM:104350
Vocal Cord And Pharyngeal Distal Myopathy	Aspiration	ORPHA:600
Occipital Horn Syndrome	Gastroesophageal reflux, Recurrent urinary tract infections, Gastroparesis, Esophagitis, Abnormal...	ORPHA:198
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Growth delay, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Micropenis, Hyp...	OMIM:600460
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, High palate, Failure to thrive, Submucous cleft hard palate	OMIM:115150
Spinocerebellar Ataxia Type 8	Aspiration	ORPHA:98760
Pudendal Neuralgia	Dysuria, Pollakisuria	ORPHA:60039
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Pallor, Hypocalcemia, Hypophosphatemia, Pulmonary arterial h...	ORPHA:667
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circula...	ORPHA:199296
Cousin Syndrome	Joint contracture of the hand, Microglossia, Hydronephrosis, Wrist flexion contracture, Camptodac...	OMIM:260660
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, High palate, Hydronephrosis, Submucous cleft hard palate	ORPHA:1340
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Incontinentia Pigmenti	Short stature, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
White-Kernohan Syndrome	Hydroureter, Anteriorly placed anus, Horseshoe kidney, Obesity, Hydronephrosis, Rectovaginal fistula	OMIM:619426
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension, Diabetic ketoacidosis	ORPHA:70578
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function, Patent ductus ar...	OMIM:132900
Pontine Tegmental Cap Dysplasia	Aspiration	OMIM:614688
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration	ORPHA:2148
Eec Syndrome	Xerostomia, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hy...	ORPHA:1896
Melnick-Needles Syndrome	Failure to thrive, Ureteral stenosis, Hydronephrosis, Stillbirth, Cleft palate	OMIM:309350
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Obesity	OMIM:619269
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Failure to thrive, Congestive heart failure, Tetralogy of Fallot, Ventric...	ORPHA:99050
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Gastrointestinal infarctions, Transient ischemic attack, Cystoce...	ORPHA:286
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Anal atresia, Urethral atresia	OMIM:271520
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Increased circulating procalcitonin concentration, Elevated circulating C-rea...	ORPHA:36238
Elliptocytosis 1	Pallor	OMIM:611804
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Camptodactyly of fi...	ORPHA:373
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus	ORPHA:229
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hematuria, Proteinuria, Glomerulo...	ORPHA:900
Trisomy 8P	Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Multiple joint contractures, Hydroneph...	ORPHA:264450
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis, Flexion contracture, Stillbirth	OMIM:308050
Joubert Syndrome 17	Hyperventilation	OMIM:614615
Apert Syndrome	Bifid uvula, Hydronephrosis, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate, Pylor...	OMIM:101200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre...	OMIM:211900
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Macroglossia, Hypo...	OMIM:269150
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Microglossia, Renal agenesis, Failure t...	OMIM:270400
Campomelic Dysplasia	Hydronephrosis, Cleft palate	ORPHA:140
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Microglossia, Ureteropelvic juncti...	ORPHA:818
Leptospirosis	Acute kidney injury, Diarrhea, Hypotension, Subconjunctival hemorrhage, Pulmonary hemorrhage, Nau...	ORPHA:509
Dubowitz Syndrome	Anal stenosis, Submucous cleft hard palate, Hydronephrosis, High palate, Hypospadias, Rectal prol...	ORPHA:235
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Hydronephrosis, Anal atresia, Rhabdomyosarcoma...	OMIM:251260
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Skeletal muscle atrophy, Celiac dise...	ORPHA:110
Schinzel-Giedion Syndrome	Anteriorly placed anus, Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, ...	ORPHA:798
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration	OMIM:618922
Holoprosencephaly 3	Hydronephrosis, Bifid uvula, Cleft palate	OMIM:142945
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Microglossia, Renal duplication, Nephrolithiasis, Hydronephrosis, Absent uvula,...	OMIM:268310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Large for gestational age, Ureteropelvic junction obstruction, Hyd...	OMIM:280000
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Slender build, Vesicoureteral reflux, Renal duplication, Feta...	ORPHA:363958
Poliomyelitis	Hypovolemic shock, Hypotension, Vomiting, Paralytic ileus, Hypertension, Anorexia, Nausea, Dysphagia	ORPHA:2912
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Weight loss, Dysphagia, Dilated cardiomyopathy	ORPHA:2388
Aregenerative Anemia	Pallor	ORPHA:101096
Neuromuscular Oculoauditory Syndrome	Aspiration	OMIM:618733
Inhalational Anthrax	Hypotension, Vomiting, Internal hemorrhage	ORPHA:247257
Alexander Disease	Precocious puberty, Hypotension, Failure to thrive, Nausea and vomiting, Hypertension, Constipati...	ORPHA:58
Urachal Cyst	Hematuria, Pyuria, Dysuria, Urachus fistula	ORPHA:488
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Diastasis recti, Hydronephrosis, Hiatus hernia, Distal arthrogryposis, Ab...	OMIM:601776
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hamartoma of tongue, Renal insufficiency, Proteinuria, Hydronephros...	ORPHA:2750
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydron...	ORPHA:2785
Halperin-Birk Syndrome	Aspiration	OMIM:618651
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Camptodactyly of finger, Ankyloglossia, Hydronephrosis, Ectopic anu...	ORPHA:1507
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Celiac disease, Stage 5 chronic...	ORPHA:2044
Rett Syndrome, Congenital Variant	Aspiration	OMIM:613454
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Camptodactyly, Flexion contracture, Hypospadias	ORPHA:487796
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Aspiration, Hypoventilation	ORPHA:258
Toxic Epidermal Necrolysis	Abnormality of the urethra, Renal insufficiency, Weight loss, Tracheoesophageal fistula, Dysuria,...	ORPHA:537
Secondary Syringomyelia	Dysuria, Facial paralysis	ORPHA:99857
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogr...	ORPHA:506358
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Cleft palate	OMIM:300712
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Ankyloglossia, Hydronephrosis, Micropenis, Bifid tong...	ORPHA:97360
3Mc Syndrome 1	Hydronephrosis, Diastasis recti, Cleft palate	OMIM:257920
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Weight loss, Dysuria, Esophageal stricture	ORPHA:36426
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Hydronephrosis, Ectopic anus, Abnormality o...	ORPHA:2308
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypopituitarism, Decr...	ORPHA:90695
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur...	OMIM:619522
Monosomy 22Q13.3	Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Renal dysplasia	ORPHA:48652
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Intesti...	ORPHA:353281
Opitz Gbbb Syndrome	Aspiration	OMIM:300000
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Tricuspid regurgitation, Death in childhood, Neonatal death, Pulmonary arter...	OMIM:614437
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Micropenis, Hypospadias, Cleft palate	ORPHA:163979
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased re...	ORPHA:293978
Chronic Pneumonitis Of Infancy	Hyperventilation	ORPHA:91359
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Aspiration	OMIM:614653
Viss Syndrome	Chronic constipation, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Abd...	OMIM:619472
Immunodeficiency 58	Colitis, Esophagitis, Dysuria, Failure to thrive	OMIM:618131
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Malabsorption, Hypophosphatemic rickets, Hyperph...	ORPHA:289176
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation	OMIM:608643
Campomelic Dysplasia	Failure to thrive, Contracture of the distal interphalangeal joint of the fingers, Submucous clef...	OMIM:114290
Okamoto Syndrome	Anal stenosis, Exaggerated median tongue furrow, Intestinal malrotation, Unilateral renal hypopla...	ORPHA:2729
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Failure to thrive, Hydronephrosis, Truncal obesity, High pala...	OMIM:180849
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ...	OMIM:619702
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Intestinal malrotation, Hydronephrosis, Upper limb amyotrophy...	OMIM:616268
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Contracture of the distal interphalangeal joint of the fingers, Hydronephrosis...	ORPHA:83617
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Aspiration	ORPHA:96182
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Pyloric stenosis	OMIM:267750
Hereditary Angioedema Type 1	Hypotension, Vomiting, Diarrhea, Intestinal edema, Nausea, Abdominal pain, Dysphagia	ORPHA:100050
Tetrasomy 9P	Bifid uvula, Recurrent urinary tract infections, Horseshoe kidney, Median cleft palate, Hydroneph...	ORPHA:3310
Chime Syndrome	Hydronephrosis, Cleft palate, Abnormality of the kidney	ORPHA:3474
Developmental And Epileptic Encephalopathy 100	Aspiration	OMIM:619777
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Intestinal malrotation, Congenital diaphragmatic hernia, Hydroneph...	OMIM:135900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Exaggerated median tongue furrow, Duplication of renal pelvis, Meckel diverticulum...	OMIM:312870
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infe...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infe...	ORPHA:353277
Charge Syndrome	Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Tracheoesophageal fistula, Micropenis, A...	ORPHA:138
Adnp Syndrome	Aspiration	ORPHA:404448
Plague	Inflammation of the large intestine, Diarrhea, Vomiting, Hypotension, Skin ulcer, Dry skin, Ileit...	ORPHA:707
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Recurrent urinary tract infections, Camptodactyly of finger, Slender build, Wi...	ORPHA:3455
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Intestinal malrotation, Crossed fused renal ectopia, Ureterop...	OMIM:147920
Hydrolethalus Syndrome 1	Hydronephrosis, Agenesis of the diaphragm, Stillbirth, Hypospadias, Cleft palate	OMIM:236680
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Abnormality of the urinary system, Hydroureter, Submucous cleft hard palate, Hydrone...	ORPHA:2636
Focal Dermal Hypoplasia	Anteriorly placed anus, Horseshoe kidney, Bifid ureter, Intestinal malrotation, Diastasis recti, ...	OMIM:305600
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Renal duplication, Hydronephrosis, Short hard palate, Micropenis, Macroglossia, Hi...	OMIM:180700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Muscular dystrophy, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Failure to thrive, Camptodactyly of finger, Hydronephrosis, Abnormality of the upper...	ORPHA:2273
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Celiac disease, Hypospadias, Congenital ...	OMIM:136140
Peters Plus Syndrome	Multicystic kidney dysplasia, Intestinal fistula, Renal duplication, Renal hypoplasia/aplasia, Hy...	ORPHA:709
Acute Liver Failure	Gastrointestinal hemorrhage, Vomiting, Acute kidney injury, Diarrhea, Hypotension, Shock, Adrenal...	ORPHA:90062
Mesomelia-Synostoses Syndrome	Hydronephrosis, Absent uvula	OMIM:600383
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Ectopic anus, Anal atresia, Esophageal atresia, Bif...	ORPHA:93271
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Bifid uvula, Obesity, Renal insufficiency, Hydron...	OMIM:188400
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Hydronephrosis, Abnormal saliva...	ORPHA:2363
Ogden Syndrome	Aspiration	OMIM:300855
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ...	OMIM:606170
Liver Disease, Severe Congenital	Aminoaciduria, Protein-losing enteropathy, Failure to thrive, Recurrent urinary tract infections,...	OMIM:619991
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Pyloric stenosis, Multicystic kidney dysplasia, Bifid uvula, Submucous cleft of sof...	ORPHA:261537
Sotos Syndrome	Ankle flexion contracture, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropel...	ORPHA:821
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Decreased body weight, Chordee, Abnormality of the kidney, Urinary ...	ORPHA:2152
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Failure to thrive, Hyperechogenic kidneys, Medullary nephrocalcin...	OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Peters-Plus Syndrome	Renal hypoplasia, Anteriorly placed anus, Diastasis recti, Decreased body weight, Hydronephrosis,...	OMIM:261540
Bilateral Perisylvian Polymicrogyria	Aspiration	ORPHA:98889
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Acrofacial Dysostosis, Cincinnati Type	Failure to thrive, Decreased body weight, Hydronephrosis, Joint contracture, High palate, Cleft p...	OMIM:616462
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Abnormality o...	ORPHA:79500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Pyloric stenosis, Multicystic kidney dysplasia, Bifid uvula, Submucous cleft of sof...	ORPHA:261552
Charge Syndrome	Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, Hydronephrosis, Tracheoesophag...	OMIM:214800
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Hydronephrosis, Stillbirth, Hypospadias, Cleft palate	OMIM:304120
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydronephrosis, Abnormal renal morphology, High palate, Renal hypoplasia/aplasia	ORPHA:363700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hydronephrosis, Vesicoureteral reflux, Nephrolithiasis	ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Bifid uvula, High palate	OMIM:620330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, High palate, Anal atresia, Renal dysplasia, Cleft palate	ORPHA:480880
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Aspiration	OMIM:619503
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Xerostomia, Hematuria, Abno...	ORPHA:95455
Acromegaly	Macroglossia, Wide penis, Long penis, Dysuria	ORPHA:963
Somatomammotropinoma	Macroglossia, Dysuria	ORPHA:314769

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 Myh11

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 Myh11.

No publications found that use IMPC mice or data for Myh11.

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MGI Allele	Allele Type	Produced
Myh11^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Myh11^{tm364338(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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