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Gene: Ermp1 MGI:106250

Gene Summary

Name:

endoplasmic reticulum metallopeptidase 1

Synonyms:

D19Wsu12e, D19Ertd410e, b2b2633Clo

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating calcium level	Ermp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.29×10^-06
increased circulating sodium level	Ermp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.94×10^-05
shortened PQ interval	Ermp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.11×10^-05
increased circulating chloride level	Ermp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.34×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	100% (2 of 2)
Aorta	Section images	heterozygote	100% (2 of 2)
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Brown adipose tissue	Section images	heterozygote	100% (2 of 2)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Cerebral cortex	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Hippocampus	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	100% (2 of 2)
Liver	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Lymph node	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Peripheral nervous system	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Thymus	Section images	heterozygote	100% (2 of 2)
Thyroid gland	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	50% (1 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	100% (2 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

4 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

View images

Human diseases caused by Ermp1 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 Ermp1 (0 diseases)
Human diseases predicted to be associated with Ermp1 (864 diseases)

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

The table below shows human diseases predicted to be associated to Ermp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a...	OMIM:231060
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614495
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614496
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Pseudohypoaldosteronism, Type Iic	Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Anencephaly 2	Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee...	OMIM:617616
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Cleft palate, Cleft upper lip	OMIM:236110
Adamantinoma	Hypercalcemia	ORPHA:55881
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition...	ORPHA:1727
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali...	OMIM:616749
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
You-Hoover-Fong Syndrome	Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch	OMIM:616954
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Hypospadias	ORPHA:1919
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:620125
Mmep Syndrome	Microphthalmia, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Cleft upper lip	ORPHA:3316
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Heart And Brain Malformation Syndrome	Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low...	OMIM:616920
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, M...	OMIM:613885
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Dextrocardia, Situs inversus totalis	OMIM:617577
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Autoimmune Hypoparathyroidism	Prolonged QT interval, Abnormal left ventricular function, Hypocalcemic seizures, Hyperphosphatem...	ORPHA:36913
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu...	ORPHA:2326
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Abnormally large globe, Vascular ring	OMIM:603387
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor...	ORPHA:99050
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ...	ORPHA:294975
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:203400
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	OMIM:610600
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Familial Isolated Hypoparathyroidism	Arrhythmia, Hypocalcemia	ORPHA:2238
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph...	OMIM:601349
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Trisomy 13	Median cleft lip, Ventricular septal defect, Anophthalmia, Displacement of the urethral meatus, A...	ORPHA:3378
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona...	OMIM:300845
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Colchicine Poisoning	Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio...	ORPHA:31824
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl...	OMIM:612561
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Microphthalmia, Syndromic 9	Atrial septal defect, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Bilatera...	OMIM:601186
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Nephrogenic Diabetes Insipidus	Hypernatremia, Hypovolemia	ORPHA:223
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ...	OMIM:179613
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Fryns Syndrome	Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ...	ORPHA:2059
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:556037
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce...	ORPHA:66625
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Tooth agenesis, Abnormal aortic mor...	ORPHA:1166
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	OMIM:177735
Anophthalmia Plus Syndrome	Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate	ORPHA:1104
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hypotension	OMIM:264350
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc...	ORPHA:250989
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno...	ORPHA:3304
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164180
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Absent pulmonary artery, Patent ductus a...	OMIM:600460
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Orofaciodigital Syndrome Xvii	Median cleft lip, High, narrow palate, Renal hypoplasia, Micropenis, Tetralogy of Fallot	OMIM:617926
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:199296
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Anal atresia, Tetralogy of Fall...	ORPHA:1381
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Cleft palate, Aortic valve stenosis, Hypoplastic left hea...	OMIM:220210
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor...	ORPHA:411986
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:556030
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate	ORPHA:85273
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, V...	OMIM:267000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Microphthalmia With Limb Anomalies	Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, Interrupted inferior vena cava with a...	OMIM:206920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Intestinal malrotation, ...	OMIM:618316
Frontonasal Dysplasia 1	Median cleft lip, Widely-spaced maxillary central incisors, Microphthalmia, Tetralogy of Fallot, ...	OMIM:136760
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu...	ORPHA:449400
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Hydrolethalus	Anophthalmia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Mi...	ORPHA:2189
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Intellectual Disability, Wolff Type	Hypospadias, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, Abnormal intestin...	ORPHA:3080
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Cleft palate, Cleft upper lip	ORPHA:398189
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft...	OMIM:300712
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate	ORPHA:1681
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Burn-Mckeown Syndrome	Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft pa...	OMIM:608572
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect...	OMIM:619657
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of...	ORPHA:251076
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate	OMIM:611867
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart	ORPHA:2476
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Patent ductus arteriosus, Orofa...	OMIM:243310
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	OMIM:600001
Charlie M Syndrome	Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth	ORPHA:1406
Parietal Foramina 1	Cleft palate, Cleft upper lip	OMIM:168500
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection	OMIM:135580
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar...	ORPHA:1110
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa...	ORPHA:77298
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,...	OMIM:616652
Feingold Syndrome Type 1	Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arter...	ORPHA:391641
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia	ORPHA:99845
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso...	OMIM:618021
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia	ORPHA:171876
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Cleft palate, Cleft upper lip	OMIM:611561
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, ...	ORPHA:261344
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate, Atrial septal d...	OMIM:614846
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated circulating cr...	OMIM:310300
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo...	ORPHA:173
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia	OMIM:605635
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Cleft palate, Cleft upper lip	OMIM:244600
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat...	ORPHA:477817
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham...	OMIM:174300
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft...	ORPHA:163979
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth...	OMIM:615502
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Abnormal aort...	ORPHA:1926
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia	OMIM:225060
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ec...	ORPHA:2549
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr...	OMIM:602418
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricular canal defect,...	OMIM:264480
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Autosomal Recessive Amelia	Non-midline cleft lip, Abnormal cardiac septum morphology, Hypoplasia of penis, Orofacial cleft	ORPHA:1027
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Acrocardiofacial Syndrome	Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Cleft upper lip, Cl...	ORPHA:2008
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, ...	OMIM:618280
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology	ORPHA:2165
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Intellectual Developmental Disorder, Autosomal Recessive 13	Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip	OMIM:613192
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic...	ORPHA:2001
Maternal Phenylketonuria	Ventricular septal defect, Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, H...	ORPHA:2209
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy...	ORPHA:247353
Orofaciodigital Syndrome Viii	Median cleft lip, High palate, Cleft palate	OMIM:300484
Hartsfield Syndrome	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:2117
Recombinant 8 Syndrome	Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Pulmonary artery stenos...	ORPHA:96167
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94089
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an...	ORPHA:95430
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great ...	OMIM:313850
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft palate	OMIM:607597
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, High palate, Cleft palate, Cleft upper lip	OMIM:609654
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic...	OMIM:616166
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev...	ORPHA:427
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Cleft upper lip, Cleft palate, Abnormal heart morphology, Narrow mouth	OMIM:239800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta...	ORPHA:980
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip	OMIM:601357
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo...	ORPHA:94080
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:612530
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy...	OMIM:613845
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Charge Syndrome	Aortic arch aneurysm, Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft pal...	ORPHA:138
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Feingold Syndrome 1	Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Patent ductus...	OMIM:164280
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia	ORPHA:79273
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia	ORPHA:428
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept...	ORPHA:2255
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Juberg-Hayward Syndrome	Anteriorly placed anus, Horseshoe kidney, Cleft upper lip	OMIM:216100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,...	OMIM:106260
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Patent ductus arteriosus, Cle...	OMIM:244300
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat...	OMIM:614294
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect, Cleft palate	OMIM:601355
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft	ORPHA:77300
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Micropenis, Cleft palate, Cleft upper lip	OMIM:244200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese...	ORPHA:73224
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypospadias, Patent ductus arteriosus, Orofacial cleft, Coarctation of aorta, Methylmalonic acidu...	ORPHA:17
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Cleft palate, Cleft upper lip	OMIM:601076
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypocalc...	ORPHA:746
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias,...	ORPHA:353281
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Fetal Alcohol Syndrome	Thin upper lip vermilion, Atrial septal defect, Non-midline cleft lip, Cleft palate, Microdontia,...	ORPHA:1915
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Cleft upper lip, Patent d...	OMIM:612582
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, In...	OMIM:270100
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus...	ORPHA:2516
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Cleft palate, Pulmonary...	ORPHA:1908
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten...	OMIM:301043
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein...	OMIM:153400
Rubinstein-Taybi Syndrome 1	Dental crowding, High, narrow palate, Aortic isthmus hypoplasia, High palate, Atrial septal defec...	OMIM:180849
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka...	ORPHA:31826
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias,...	OMIM:601808
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Zechi-Ceide Syndrome	Oligodontia, Cleft palate, Cleft upper lip	OMIM:612916
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Triploidy	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft lip, Cleft palate, Wi...	ORPHA:3376
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Rhabdoid Tumor	Hypertension, Hypercalcemia, Internal hemorrhage	ORPHA:69077
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Median cleft lip, Cleft palate, Abnormality of the dentition	ORPHA:1794
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial...	ORPHA:915
Emanuel Syndrome	Delayed eruption of teeth, Dental crowding, Ventricular septal defect, Unilateral renal agenesis,...	ORPHA:96170
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Holoprosencephaly	Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Ventricu...	ORPHA:2162
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala...	OMIM:618494
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Non-midline cleft lip, C...	ORPHA:1335
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn...	OMIM:239300
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Dental crowding, Bicuspid aortic valve, Fusiform ...	OMIM:617168
Microphthalmia, Syndromic 2	Anophthalmia, Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Hypospadias, Persisten...	OMIM:300166
Oculoskeletodental Syndrome	Lacunar stroke, Hypercalcemia, Hypocalcemia	OMIM:618440
Distal Deletion 10P	Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Ectopic anus, Anal atresia	ORPHA:1580
Koolen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu...	OMIM:610443
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ...	OMIM:300000
Pallister-Hall Syndrome	Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication, Cleft upper lip...	OMIM:146510
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho...	ORPHA:466650
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ...	OMIM:200990
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal telangiectasia	OMIM:620157
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'...	ORPHA:513456
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Fai...	ORPHA:2250
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypokalem...	ORPHA:411634
Distal Monosomy 7Q36	Wide mouth, Non-midline cleft lip, Hypoplasia of penis, Cleft palate	ORPHA:1636
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bif...	ORPHA:899
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypertension, Hypokalemia, Hypocalcemia	OMIM:617913
Necrotizing Enterocolitis	Shock, Hyponatremia, Bradycardia, Hypotension	ORPHA:391673
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Vesicoureteral reflux, Megarectum...	OMIM:301056
Charge Syndrome	Anophthalmia, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micr...	OMIM:214800
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum	ORPHA:1252
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ...	OMIM:601678
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Trisomy 8Q	Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum...	ORPHA:1752
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
Orofaciodigital Syndrome Vi	Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Coarctation of aorta...	OMIM:277170
Lymphedema-Distichiasis Syndrome	Proteinuria, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Tubulointer...	ORPHA:33001
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar...	ORPHA:2712
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Micropenis, Cleft palate, Cleft upper lip	OMIM:147950
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir...	ORPHA:36234
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p...	ORPHA:90322
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Naxos Disease	Cardiomyopathy, Cleft upper lip	ORPHA:34217
Blepharocheilodontic Syndrome 1	Cleft upper lip, Hypodontia, Anal atresia, Conical tooth	OMIM:119580
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p...	ORPHA:358
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental malocclusion, ...	OMIM:610829
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve...	OMIM:618622
Digeorge Syndrome	Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, P...	OMIM:188400
Pallister-Hall-Like Syndrome	Microglossia, Median cleft lip, Cleft palate, Micropenis	OMIM:241800
Alg3-Cdg	Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, High palate, Abnormal uv...	ORPHA:79321
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia	ORPHA:83601
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353277
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma...	ORPHA:89938
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:79444
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec...	ORPHA:231625
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Intestinal malrotation, ...	ORPHA:2538
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H...	OMIM:605627
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Distal Deletion 15Q	Thin upper lip vermilion, Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hy...	ORPHA:1596
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro...	ORPHA:2470
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Situs inversus total...	ORPHA:244
Zaki Syndrome	Patent ductus arteriosus, Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Patent...	OMIM:619648
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenes...	ORPHA:1297
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Cleft upper lip, Ectopic k...	OMIM:164210
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Abnormality of the...	ORPHA:1770
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Hypotension, Arrhythmia	ORPHA:549
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ...	ORPHA:1913
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate	OMIM:258865
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic...	ORPHA:261311
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Ureteropelvic junction obstruction, Ventricular septal defect, Open mo...	OMIM:280000
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Orofaciodigital Syndrome I	Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary...	OMIM:311200
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Renal hypoplasia, Cleft pa...	OMIM:616300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Hypospadias, Thick lower lip vermilion, Submucous cleft hard palate, H...	OMIM:619103
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Porphyria Variegata	Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration	ORPHA:79473
Acrofrontofacionasal Dysostosis	Hypospadias, Non-midline cleft lip, Cleft palate, Everted lower lip vermilion, High palate	ORPHA:1784
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary artery stenosis, Cle...	OMIM:100300
Hypophosphatasia	Hypercalcemia	ORPHA:436
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Smith-Magenis Syndrome	Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Abnormality of th...	ORPHA:819
Dystonia-Deafness Syndrome 1	Cleft palate, Cleft upper lip	OMIM:607371
Lymphatic Malformation 5	Hypoplasia of lymphatic vessels, Cleft palate	OMIM:153200
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
X-Linked Intellectual Disability, Nascimento Type	Mitral stenosis, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Deep philtrum,...	ORPHA:163956
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Median cleft lip, Orofacial cleft, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Myocarditis, Hypo...	ORPHA:3452
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hypovolemia, Hyperka...	ORPHA:95409
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension	ORPHA:199299
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Rapp-Hodgkin Syndrome	Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, ...	OMIM:129400
Renal Hypoplasia, Bilateral	Hyponatremia, Hypertension, Hyperkalemia	ORPHA:97362
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Cleft upper lip	OMIM:273400
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Hypertension, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te...	ORPHA:79443
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l...	ORPHA:861
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Schisis Association	Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate	ORPHA:63862
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c...	OMIM:619381
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Abnormal heart morphology, H...	ORPHA:314588
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Cleft palate, Downturned corner...	ORPHA:2075
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At...	ORPHA:371428
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence...	OMIM:616145
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias...	OMIM:206900
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal...	ORPHA:397
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Alg8-Cdg	Hyponatremia	ORPHA:79325
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Pat...	OMIM:617506
Enlarged Parietal Foramina	Cleft lip, Abnormal cerebral vein morphology, Cleft palate, Venous malformation	ORPHA:60015
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve...	OMIM:619472
Microphthalmia With Limb Anomalies	Macrodontia, Cleft upper lip, Venous insufficiency, Cleft palate, Horseshoe kidney, Thin vermilio...	ORPHA:1106
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Cleft palate, Cleft upper lip	OMIM:312150
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cl...	ORPHA:261236
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Agene...	ORPHA:141099
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo...	ORPHA:276621
Nager Syndrome	Unilateral renal agenesis, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal palate morph...	ORPHA:245
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Familial Glucocorticoid Deficiency	Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension	ORPHA:361
Cockayne Syndrome Type 1	Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, Abnormality of...	ORPHA:90321
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept...	OMIM:249420
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Paten...	OMIM:619268
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ...	OMIM:241200
Liddle Syndrome 1	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:177200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Pulmonic stenosis, Atrial septa...	OMIM:618223
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a...	OMIM:115470
8P23.1 Microdeletion Syndrome	Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ab...	ORPHA:251071
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Richieri-Costa/Guion-Almeida Syndrome	Cleft palate, Cleft upper lip	OMIM:268850
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ...	OMIM:617982
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet...	OMIM:164200
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph...	ORPHA:2750
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysf...	OMIM:614886
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Unilateral cleft ...	OMIM:616897
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Cleft upper lip	ORPHA:894
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias, Long philtrum	OMIM:615877
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Dental crowding, Intestinal malrotation...	OMIM:300373
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Dilated cardiomyopathy, Cleft pal...	OMIM:242840
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension	ORPHA:90791
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Familial Dysautonomia	Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Down Syndrome	Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Atrioventricular canal defec...	OMIM:190685
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Vesic...	OMIM:605039
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, High, narrow palate, Tricuspid valve prolapse, Long philtrum, Aniridia	ORPHA:1101
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl...	OMIM:619895
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ...	OMIM:249000
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat...	OMIM:310200
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Abnormality of th...	ORPHA:887
Mirage Syndrome	Intracranial hemorrhage, Hyponatremia, Hyperkalemia	OMIM:617053
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:3429
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
3Mc Syndrome 1	Dental crowding, Ventricular septal defect, Cleft upper lip, Cleft lip, Patent ductus arteriosus,...	OMIM:257920
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Omodysplasia 2	Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cleft palate, Long philtrum, Microp...	OMIM:164745
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ...	OMIM:616789
Rabin-Pappas Syndrome	Hyponatremia, Retinal telangiectasia	OMIM:620155
Postaxial Acrofacial Dysostosis	Non-midline cleft lip, Cleft palate	ORPHA:246
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Acitretin/Etretinate Embryopathy	Conotruncal defect, High palate, Atrioventricular canal defect, Aplasia/Hypoplasia of the optic n...	ORPHA:40366
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the tongu...	ORPHA:564
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Cleft upper lip	ORPHA:96181
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Aplasia...	OMIM:617088
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,...	ORPHA:90038
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Prot...	OMIM:122470
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste...	OMIM:305450
Aarskog-Scott Syndrome	Cleft upper lip, Cleft palate, Curved linear dimple below the lower lip, Hypodontia, Broad philtrum	OMIM:305400
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Bartsocas-Papas Syndrome	Median cleft lip, Cleft palate, Narrow mouth	ORPHA:1234
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Hypophosphatasia, Infantile	Intracranial hemorrhage, Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis	ORPHA:544482
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Culler-Jones Syndrome	Micropenis, Cleft palate, Cleft upper lip	OMIM:615849
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Unilateral cleft lip	ORPHA:2511
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate	ORPHA:2003
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Ventricular septal defec...	ORPHA:2473
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Cheilitis, S...	ORPHA:2331
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Hypocalcemia	ORPHA:175
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Adenohypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95512
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Pearson Syndrome	Cardiac conduction abnormality, Hypophosphatemia, Cardiomyopathy, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:699
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly...	OMIM:613091
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia	OMIM:201180
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ...	OMIM:301068
3Mc Syndrome 2	Hypospadias, Cleft upper lip, Cleft palate, Horseshoe kidney, Downturned corners of mouth, High p...	OMIM:265050
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Dental crowding, Hypospadias, Cleft upper lip,...	OMIM:219000
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, ...	OMIM:229850
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo...	ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent...	OMIM:610505
H Syndrome	Malabsorption, Cleft upper lip, Gingival overgrowth, Varicose veins, Micropenis, Enlarged kidney	ORPHA:168569
Fraser Syndrome	Anal stenosis, Anophthalmia, Dental crowding, Hypoplasia of penis, Multicystic kidney dysplasia, ...	ORPHA:2052
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Shigellosis	Hyponatremia, Myocarditis, Hypovolemic shock, Abnormal blood ion concentration	ORPHA:810
Holoprosencephaly 4	Median cleft lip, Median cleft lip and palate	OMIM:142946
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension	ORPHA:90794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ...	ORPHA:1071
Sheehan Syndrome	Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
3Mc Syndrome 3	Cleft upper lip, Horseshoe kidney, Cleft palate, Micropenis, Penoscrotal hypospadias	OMIM:248340
Acromelic Frontonasal Dysostosis	Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, U-Shaped...	OMIM:603671
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Submucous cleft hard palate, Cleft palate, Gi...	ORPHA:2588
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Bilateral microphthalmos, Cleft pa...	OMIM:610828
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to...	OMIM:269860
Panhypophysitis	Hyponatremia, Orthostatic hypotension	ORPHA:95513
Larsen Syndrome	Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Aorti...	OMIM:150250
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Renal hypoplasia, Cleft palate, C...	OMIM:105650
Meckel Syndrome, Type 6	Renal cyst, Horseshoe kidney, Cleft palate, Cleft upper lip	OMIM:612284
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N...	OMIM:161200
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia	ORPHA:79276
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Partial an...	OMIM:619343
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi...	OMIM:619758
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Oligodontia, Unilateral cleft lip	ORPHA:1787
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu...	ORPHA:99125
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Addison Disease	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:85138
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia	ORPHA:251274
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Postaxial Acrofacial Dysostosis	Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft palate, Micropenis	OMIM:263750
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Urethral atresia, T...	OMIM:314390
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Hyp...	ORPHA:567
Distal Deletion 12Q	Median cleft lip, Ectopic kidney, High, narrow palate, Supernumerary tooth, Patent ductus arterio...	ORPHA:96149
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Pat...	OMIM:154400
Cerebrofaciothoracic Dysplasia	Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip	ORPHA:1394
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Cleft palate	ORPHA:1300
Hypertelorism-Microtia-Facial Clefting Syndrome	Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate	ORPHA:2213
Monosomy 13Q34	Hematochezia, Hypercalcemia, Epistaxis, Pulmonic stenosis	ORPHA:96168
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia	OMIM:601701
De Barsy Syndrome	Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aorti...	ORPHA:2962
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Trisomy 18	Ventricular septal defect, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate...	ORPHA:3380
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Cleft upper lip, Patent ductus arteriosus, Gingival overgrowth, Microd...	OMIM:213980
Constricting Bands, Congenital	Ectopia cordis, Bladder exstrophy, Cleft palate, Cleft upper lip	OMIM:217100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia, Hypotension	ORPHA:293978
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase...	ORPHA:168558
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Hypovolemia, Hyperkalemia, Hypotension,...	ORPHA:275761
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate	OMIM:611812
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f...	ORPHA:1973
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Short lingual frenul...	ORPHA:79500
Unilateral Ocular Duplication	Median cleft lip, Cleft palate	ORPHA:3374
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase...	ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Oculodentodigital Dysplasia	Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpholog...	ORPHA:2710
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Anophthalmia, Intestinal malrotation, Cleft uppe...	OMIM:305600
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Microphallus, Thick upper lip ve...	OMIM:612651
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach polyps, Cardiac fibrom...	OMIM:109400
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Open mouth, Hypoplastic aortic arch, Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:457284
14Q22Q23 Microdeletion Syndrome	Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Renal hypoplasia	ORPHA:264200
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla...	ORPHA:85443
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Hypocalcemia, Hypophosphatemia	ORPHA:667
Vacterl With Hydrocephalus	Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia	ORPHA:3412
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Ureteral duplication, Exaggerated cupid's bow, Mult...	ORPHA:709
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f...	ORPHA:1780
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Epispadi...	ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Thick vermilion border, Long philtrum, Atrial septal defect, Microphthalmia	ORPHA:2526
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, ST segment elevation	ORPHA:94125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cleft upper lip, Cleft palate, Buphthalmos, Microphthalmia, Anal atresia	OMIM:236670
Acromelic Frontonasal Dysplasia	Wide mouth, Median cleft lip, Median cleft palate	ORPHA:1827
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or...	ORPHA:230
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Ascending aorta hypoplasia, Deep philtrum, Downturned corners of mouth, High pal...	OMIM:619503
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defe...	OMIM:235730
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula	OMIM:119500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p...	OMIM:263520
Rajab Interstitial Lung Disease With Brain Calcifications 1	Unconjugated hyperbilirubinemia, Hypoalbuminemia, Hypocalcemia, Portal hypertension	OMIM:613658
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo...	ORPHA:167
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C...	OMIM:309801
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Clef...	OMIM:607872
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, C...	OMIM:604292
Japanese Encephalitis	Hyponatremia	ORPHA:79139
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Long penis, Gingival o...	OMIM:135500
Neu-Laxova Syndrome 1	Ventricular septal defect, Cleft upper lip, Swollen lip, Patent ductus arteriosus, Thick lower li...	OMIM:256520
Fibular Hemimelia	Anophthalmia, Abnormal heart morphology	ORPHA:93323
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:480864
Arterial Tortuosity Syndrome	Median cleft lip and palate, Hiatus hernia, Pyloric stenosis, Pulmonary artery stenosis, Dilated ...	ORPHA:3342
8Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal age...	ORPHA:508488
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum...	ORPHA:50
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Renal Agenesis, Bilateral	Non-midline cleft lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate	ORPHA:1848
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Ectopic kidney, Cleft palate, Oral synechia, Microphthalmia, Micr...	OMIM:263650
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial...	OMIM:609192
Tetraamelia Syndrome 1	Cleft upper lip, Cleft palate, Urethral atresia, Microphthalmia, Anal atresia	OMIM:273395
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir...	ORPHA:268
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Abnormal heart valve morphology, Hypospadias, Cleft upper lip, Cleft...	ORPHA:280
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Bicuspid aortic valve, Cleft upper lip, Hyp...	OMIM:309800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, X...	OMIM:129900
Roberts Syndrome	Cleft upper lip, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Microphthalmia	ORPHA:3103
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:373
Cystinosis, Nephropathic	Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho...	OMIM:219800
Chime Syndrome	Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar...	ORPHA:3474
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Frontofacionasal Dysplasia	Microphthalmia, Bifid uvula, Orofacial cleft, Cleft upper lip	OMIM:229400
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ...	ORPHA:70591
Nijmegen Breakage Syndrome	Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Hydronephrosis, Anal atresia	OMIM:251260
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Craniofrontonasal Syndrome	Abnormality of the dentition, Hypospadias, Cleft palate, Cleft upper lip	OMIM:304110
Peters-Plus Syndrome	Thin upper lip vermilion, Ureteral duplication, Short lingual frenulum, Bilateral cleft lip, Exag...	OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Atrial septal defect, Exaggerated median tongue furrow, Hypospadias, Patent ductus ar...	OMIM:312870
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261537
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Cleft upper lip, Abnormal cardiac septum morphology, Hydronephrosis, S...	OMIM:308050
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Median cleft lip and palate, Dental crowding, Abnormal dent...	ORPHA:3310
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Mowat-Wilson Syndrome	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Widely spaced te...	ORPHA:2152
Microphthalmia, Syndromic 6	Anophthalmia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, L...	OMIM:113620
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Parathyroid Carcinoma	Shortened QT interval, Hypercalcemia, Hypophosphatemia	ORPHA:143
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Aicardi Syndrome	Microphthalmia, Hiatus hernia, Cleft palate, Cleft upper lip	OMIM:304050
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti...	OMIM:157800
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Hypertension, Increased serum bil...	ORPHA:731
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261552
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Mitral valve prolaps...	ORPHA:828
Joubert Syndrome 21	Anophthalmia, Renal cyst	OMIM:615636
Wolf-Hirschhorn Syndrome	Rieger anomaly, Ventricular septal defect, Hypospadias, Cleft upper lip, Malrotation of small bow...	OMIM:194190
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Kyphomelic Dysplasia	Cleft palate, Cleft upper lip	OMIM:211350
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Bifid uvula...	OMIM:613795
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Ventricular septal defect, Pulmonary artery stenosis, Deep philtrum, ...	ORPHA:96334
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,...	OMIM:236680
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Long penis, Cl...	OMIM:268300
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma	ORPHA:653
Vipoma	Hematochezia, Hypokalemia, Hypercalcemia	ORPHA:97282
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:97278
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:913
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology, Bifid uvula, Median cleft lip and palate	OMIM:184705
Alobar Holoprosencephaly	Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary...	ORPHA:220386
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:97283
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Renal hypoplasi...	ORPHA:93271
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:97261
Johanson-Blizzard Syndrome	Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbilirubinemia, Dil...	OMIM:243800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Glucagonoma	Gastrointestinal hemorrhage, Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Shortened QT interval, Hematemesis, Melena, Hypertension	ORPHA:652
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Sarcoidosis	Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart block, Ventricul...	ORPHA:797
Vater/Vacterl Association	Ventricular septal defect, Hypospadias, Ectopic kidney, Esophageal atresia, Patent ductus arterio...	OMIM:192350
Williams Syndrome	Hypercalcemia, Sudden cardiac death, Myocardial infarction, Elevated circulating creatine kinase ...	ORPHA:904
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy	ORPHA:2131
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Single ventricle, Solitary median ma...	OMIM:157170
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Suprav...	OMIM:194050
Holoprosencephaly 1	Microphthalmia, Micropenis, Single ventricle, Median cleft lip and palate	OMIM:236100
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia	OMIM:241080
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia	ORPHA:3464
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Sotos Syndrome	Hypercalcemia	ORPHA:821

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 Ermp1

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 Ermp1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Ermp1^{tm1.1(KOMP)Vlcg}	PMC5503261

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ermp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Ermp1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Ermp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ermp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ermp1 MGI:106250

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

Combined SHIRPA and Dysmorphology

X-ray

X-ray

X-ray

X-ray

Sleep Wake

Eye Morphology

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Ermp1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data