Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Mgp MGI:96976

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

matrix Gla protein

Synonyms:

Mglap

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mgp 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 Mgp (2 diseases)
Human diseases predicted to be associated with Mgp (828 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Keutel Syndrome		Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten...	ORPHA:85202
Keutel Syndrome		Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Cerebral calcific...	OMIM:245150

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

Disease	Matching phenotypes	Source
Calcification Of Joints And Arteries	Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi...	OMIM:211800
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea...	OMIM:208000
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte...	ORPHA:56
Arteriosclerosis, Severe Juvenile	Short stature, Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tor...	OMIM:208060
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi...	OMIM:203500
Calciphylaxis	Ectopic ossification, Arterial calcification, Secondary hyperparathyroidism	ORPHA:280062
Hereditary Arterial And Articular Multiple Calcification Syndrome	Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol...	ORPHA:289601
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Mitral valve calcification, Hepatomegaly, Bronchitis, Right ventricular ...	ORPHA:60025
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc...	OMIM:614823
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, T...	OMIM:175050
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Limb joint contracture, Short stature, Basal ganglia calcification, Calcification of the small br...	OMIM:114100
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Singleton-Merten Syndrome 2	Osteopenia, Short stature, Aortic valve calcification, Osteolytic defects of the phalanges of the...	OMIM:616298
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Cardiomega...	ORPHA:51608
Distal Duplication 14Q	Short stature, Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal lung lo...	ORPHA:1705
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Proteinuria, Abnormal...	ORPHA:77261
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Gaucher Disease	Osteopenia, Osteoarthritis, Cherry red spot of the macula, Abnormal bleeding, Hepatomegaly, Incre...	ORPHA:355
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Reduced b...	ORPHA:79474
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Metatarsus adductu...	ORPHA:584
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove...	ORPHA:53721
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Familial Multiple Nevi Flammei	Cerebral calcification, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteri...	ORPHA:624
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded met...	OMIM:182250
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism	OMIM:615269
Parkes Weber Syndrome	Abnormal bleeding, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Suba...	ORPHA:90307
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte...	ORPHA:137667
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ...	ORPHA:1110
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplas...	ORPHA:1166
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Short stature, Joint stiffness, Abnormality of the urinary syst...	ORPHA:702
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog...	ORPHA:974
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Congestive heart failure, Reduced bone mineral density...	ORPHA:137608
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Aortic Valve Disease 1	Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou...	OMIM:109730
Arterial Dissection-Lentiginosis Syndrome	Arterial dissection, Arteriovenous malformation	ORPHA:1682
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Joint hyperflexibility, Hand polyd...	ORPHA:60040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi...	ORPHA:2072
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Phakomatosis Pigmentovascularis	Cerebral calcification, Arteriovenous malformation, Reduced bone mineral density	ORPHA:2875
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Pate...	ORPHA:1556
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Short stature, Vascular calcification	OMIM:231000
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous fistula, Arteriovenous malformation	OMIM:608354
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Short stature, Abnormality of cartilage of external ear, ...	ORPHA:3426
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Arteriovenous malformation	ORPHA:1059
Melorheostosis	Skeletal muscle atrophy, Increased bone mineral density, Peripheral arteriovenous fistula, Joint ...	ORPHA:2485
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Medial calcification of large arteries, Short stature, Congestive heart failure, Func...	ORPHA:391487
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri...	ORPHA:365
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension	OMIM:602079
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Unilateral Polymicrogyria	Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology	ORPHA:268943
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Tracheoesophageal fistul...	OMIM:314390
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol...	ORPHA:464329
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip...	ORPHA:392
Renal Tubular Dysgenesis	Renotubular dysgenesis, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmo...	ORPHA:3033
Aicardi-Goutières Syndrome	Myositis, Cerebral calcification, Short stature, Multiple joint contractures, Cardiomegaly, Rayna...	ORPHA:51
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Clubbing, Heart m...	ORPHA:2038
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Femoral bowing,...	OMIM:615415
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Atrial septal defec...	ORPHA:84
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab...	ORPHA:980
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis...	ORPHA:394
Currarino Syndrome	Vesicoureteral reflux, Hypoplasia of penis, Hypospadias, Arteriovenous malformation	ORPHA:1552
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Type II diabetes mellitus, Gout, Premature coronary artery atherosclerosis	OMIM:610947
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flexion contrac...	OMIM:613870
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Tall stature, Angina pectoris, Short stature, Telangiectasia, Intracrani...	ORPHA:109
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Congeni...	OMIM:608978
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supraventricula...	ORPHA:90064
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Wide anterior fontanel, Overgrowth, Nephroblastoma, Enlarged kidney	OMIM:618272
Osteoporosis	Osteoporosis	OMIM:166710
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation...	OMIM:606721
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Abnormal vascular morphology, Chronic kidney disease, Abnormal skel...	ORPHA:314652
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Hennekam Syndrome	Finger syndactyly, Recurrent respiratory infections, Mild postnatal growth retardation, Camptodac...	ORPHA:2136
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ...	ORPHA:185
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragm...	ORPHA:1120
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot...	ORPHA:2410
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Short stature	ORPHA:2204
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis	OMIM:234810
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Eiken Syndrome	Abnormal trabecular bone morphology, Short stature, Delayed epiphyseal ossification, Limited elbo...	ORPHA:79106
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolys...	ORPHA:449285
Mucopolysaccharidosis-Plus Syndrome	Cerebral calcification, Metaphyseal widening, Flexion contracture, Atrial septal defect, Nephriti...	OMIM:617303
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro...	OMIM:618845
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Basal Ganglia Calcification, Idiopathic, 1	Basal ganglia calcification, Calcification of the small brain vessels, Urinary incontinence, Dens...	OMIM:213600
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis	OMIM:114065
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Odontochondrodysplasia 1	Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short metacarpal, Sh...	OMIM:184260
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Short stature, Limitation of joint mobility	ORPHA:166277
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Basal ganglia calcification, Flexion ...	ORPHA:90324
Variegate Porphyria	Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph...	OMIM:176200
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, De...	OMIM:619795
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi...	OMIM:600785
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Tachycardia, Crazy paving pattern, Foam cells	ORPHA:264675
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Supraventricula...	OMIM:255100
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio...	OMIM:614921
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular s...	OMIM:620210
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Increased urinary porphobilinogen, Elevate...	OMIM:121300
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a...	OMIM:601186
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Joint stiffness, Abnormal lu...	ORPHA:2516
Superficial Siderosis	Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Functional abnormality of...	ORPHA:247245
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Flexion contracture, Hypertension, Pulmonary hypoplasia, Abnormal r...	OMIM:616733
Angioosteohypotrophic Syndrome	Venous malformation, Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony ...	ORPHA:75508
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty	OMIM:615270
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten...	ORPHA:2306
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Short stature, Renal hy...	OMIM:612946
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing...	ORPHA:335
H Syndrome	Hallux valgus, Short stature, Abnormality of the kidney, Recurrent fractures, Recurrent pharyngit...	ORPHA:168569
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit...	ORPHA:2260
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Renal agenesis, Short stature, Anomalous origin of left coronar...	ORPHA:2326
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of...	ORPHA:79093
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Atrial septal defect, Limited elbow extension and supination, Ventricular septal de...	ORPHA:401935
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Tubulointerstitial nephritis, Hypovolemia, Ischemic...	ORPHA:90068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development	OMIM:615267
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification,...	ORPHA:2635
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio...	ORPHA:83454
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Ant...	OMIM:608836
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Abnormal lung lobation, Abnormal epiphysis mor...	ORPHA:2631
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Re...	ORPHA:744
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Osteopenia, Centrally nucl...	OMIM:613327
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ...	OMIM:618187
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Cockayne Syndrome	Skeletal muscle atrophy, Cerebral calcification, Urinary incontinence, Basal ganglia calcificatio...	ORPHA:191
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Andersen-Tawil Syndrome	Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopic ventricular ...	ORPHA:37553
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Megabladder, Congenital	Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non...	OMIM:618719
Lethal Congenital Contracture Syndrome 11	Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp...	OMIM:617194
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, F...	OMIM:252500
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten...	ORPHA:85202
Thanatophoric Dysplasia	Atrial septal defect, Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morph...	ORPHA:2655
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Short stature, Short toe, Spina bifida occulta, Perimembranous ventricula...	OMIM:617877
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy...	ORPHA:70587
Alg9-Cdg	Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left...	ORPHA:79328
Proteus Syndrome	Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Venous ma...	OMIM:176920
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Knee flexion contr...	OMIM:616531
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Raynaud phenomenon, Respiratory tract infection, Clubbing...	ORPHA:79128
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ...	ORPHA:1926
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Clinodactyly of ...	ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Internal hemorrhage, Abnormal bleeding, Peripheral ar...	ORPHA:286
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Classical Ehlers-Danlos Syndrome	Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ecchymosis, Dislocate...	ORPHA:287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Birth length greater than 97th perce...	ORPHA:314588
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti...	OMIM:619902
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ...	ORPHA:93296
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort...	OMIM:615779
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein...	ORPHA:71273
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Hip dysplasia, Clinod...	OMIM:617219
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Short st...	ORPHA:2097
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema...	ORPHA:199241
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Flexion contracture, Atrial septal defect, Patent foramen ovale, Tricuspi...	ORPHA:505248
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, A...	ORPHA:290
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ...	ORPHA:2876
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri...	OMIM:265380
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy...	ORPHA:2141
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, V...	OMIM:300855
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Generalized...	ORPHA:1596
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing...	OMIM:610682
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Ascending tubular aorta an...	OMIM:619825
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Alg3-Cdg	Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the desce...	ORPHA:79321
Meckel Syndrome, Type 8	Pericardial effusion, Polydactyly, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged ...	OMIM:613885
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recurrent fractures, Paten...	OMIM:618188
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal renal mo...	ORPHA:1666
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol...	ORPHA:2257
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula	OMIM:149000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, 2-3 toe syndactyly, Abnormal he...	ORPHA:485405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra...	ORPHA:542323
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Portal hypertension, Situs inversus totalis, Splenomegaly, Pat...	OMIM:208540
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti...	ORPHA:49827
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Disproporti...	OMIM:616166
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Osteoporosis,...	OMIM:232200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Hypospadias, Fractured radius, Ventricular septal defect, Decreased fibu...	OMIM:616897
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul...	ORPHA:500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Recurrent respiratory infections, Atrial septal defect, Hypospadias, Overlapping toe, P...	OMIM:618316
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ...	ORPHA:368
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Short stature, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Co...	ORPHA:251071
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty...	ORPHA:276280
Mosaic Trisomy 16	Syndactyly, Hypospadias, Ventricular septal defect, Short thumb, Abnormal lung morphology, Patent...	ORPHA:1708
Familial Dysautonomia	Recurrent respiratory infections, Orthostatic hypotension, Renal insufficiency, Tachycardia, Glom...	ORPHA:1764
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Patent ductus arte...	OMIM:616867
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Lef...	ORPHA:75249
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Short stature,...	OMIM:619657
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia	ORPHA:3222
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Hallux valgus, Tachycardia, Hypospadias, Bicuspid aortic valve, Abnormalit...	ORPHA:1772
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Pul...	OMIM:619003
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger jo...	ORPHA:363705
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Wide anterior fontanel, Metaphyseal widening, Flexion contractur...	OMIM:263210
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Cardiomegaly, Wide distal femoral metaphysis, Vascular dila...	OMIM:613320
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro...	ORPHA:1692
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle...	ORPHA:261243
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Camptodactyly of finger, Short stature, Congenital diaphragmatic ...	ORPHA:2311
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Hypospadias, Rocker bottom foot, Pulmonary artery atr...	OMIM:301056
Hutchinson-Gilford Progeria Syndrome	Precocious atherosclerosis, Osteolysis, Growth delay, Generalized osteoporosis, Premature coronar...	OMIM:176670
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron...	ORPHA:244
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se...	ORPHA:26793
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri...	OMIM:270100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho...	ORPHA:500095
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica...	OMIM:241530
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary insufficiency, Pulmonary hypoplasia, Abnormal cartilage matrix	OMIM:245650
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:600081
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Aspiration pneumonia, Abnormal heart morphology	ORPHA:79264
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, ...	ORPHA:36234
Cholera	Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Stroke, Hypotension, Aspiration p...	ORPHA:173
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 54	Intrauterine growth retardation, Tachycardia, Lower limb muscle weakness	OMIM:619737
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos...	ORPHA:785
Loeys-Dietz Syndrome 4	Joint laxity, Torticollis, Arachnodactyly, Protrusio acetabuli, Bicuspid aortic valve, Arterial t...	OMIM:614816
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276580
Cat Eye Syndrome	Atrial septal defect, Ventricular septal defect, Renal agenesis, Short stature, Absent radius, Pa...	OMIM:115470
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve...	OMIM:610628
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Knee flexion contracture, Atrial septal defect, Wrist flexion ...	OMIM:121050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Increased var...	OMIM:617022
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Surfactant Metabolism Dysfunction, Pulmonary, 1	Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid accumulation, Absent ...	OMIM:265120
Pagod Syndrome	Multicystic kidney dysplasia, Short stature, Sudden cardiac death, Renal hypoplasia/aplasia, Situ...	ORPHA:991
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Short stature, Secundum at...	OMIM:600987
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo...	OMIM:108900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi...	OMIM:617468
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Recurrent fractures, Cranio...	ORPHA:251004
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Tonne-Kalscheuer Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Abnormal heart morphology, Growth de...	OMIM:300978
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Cerebral calcification, Abnormally ossified vertebrae, S...	ORPHA:3035
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmo...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric...	OMIM:300963
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia	ORPHA:3032
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Intraute...	ORPHA:86822
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh...	ORPHA:99827
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndactyly, Pulmon...	OMIM:236500
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Pallister-Hall-Like Syndrome	Toe syndactyly, Short stature, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polyda...	OMIM:241800
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Tularemia	Pleural effusion, Tachycardia, Pneumonia	ORPHA:3392
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren...	ORPHA:139466
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Pulmonary edema, Cardiac conduction abnormality, Con...	ORPHA:466677
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke...	ORPHA:289157
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:300707
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Hereditary Coproporphyria	Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Porphyrinuria, Increased urinar...	ORPHA:79273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Growth delay, Hyper...	OMIM:223900
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Atrial septal defect, Intrauterine growth retardation, Di...	OMIM:619488
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations	ORPHA:324575
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, Short greater...	OMIM:256050
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Rhabdomyolysis, Ven...	OMIM:212138
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Greenberg Dysplasia	Laryngeal calcification, Multiple prenatal fractures, Patchy variation in bone mineral density, A...	OMIM:215140
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Abnormal left ven...	ORPHA:36913
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial...	OMIM:614091
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch...	OMIM:312870
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Congenital dia...	OMIM:611812
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:264700
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Renal agenesis, Absent thumb, Patent ductus arteriosus, Abnormal lung ...	OMIM:300514
Periventricular Nodular Heterotopia 1	Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f...	OMIM:300049
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul...	OMIM:277440
Chops Syndrome	Ventricular septal defect, Short stature, Tracheomalacia, Splenomegaly, Patent ductus arteriosus,...	OMIM:616368
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Tetraamelia Syndrome 2	Bilateral lung agenesis, Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Hypospadias, Dextrocardia, Postnatal growth retardation, W...	OMIM:248700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Small h...	OMIM:300845
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Trach...	ORPHA:2437
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Craniosynostosis, Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary ...	OMIM:200995
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Re...	ORPHA:536467
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy...	ORPHA:31826
Hypophosphatemic Rickets, X-Linked Recessive	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300554
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Short stature, Coarctation of aorta, Prolonged prothrombi...	OMIM:616559
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the u...	ORPHA:371428
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp...	OMIM:602531
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Laryngotrache...	ORPHA:1190
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Tracheoesophageal fistula, Coarctation of aorta, Abnormal...	ORPHA:1923
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Short stature, Recurrent fractures, Abnormal toe morphology, Abnor...	OMIM:163200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Short phalan...	OMIM:208500
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Pheochromocytoma/Paraganglioma Syndrome 1	Carotid paraganglioma, Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Mercury Poisoning	Tachycardia, Hypertension, Interstitial pneumonitis, Hypotension, Acute kidney injury	ORPHA:330021
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Ectopic kidney,...	ORPHA:3027
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi...	ORPHA:63
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Short stature, Sagittal craniosynostosis, Small hand, Aortic root aneu...	OMIM:145420
Relapsing Fever	Abnormal bleeding, Tachycardia, Epistaxis, Hematuria, Prolonged prothrombin time, Abnormality of ...	ORPHA:91547
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Hype...	OMIM:232220
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Tachycardia, Syncope, Premature ventricul...	OMIM:192445
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Absent pulmonary artery, Split hand, Clubbing, Patent duc...	OMIM:600460
Diamond-Blackfan Anemia 20	Acetabular dysplasia, Total anomalous pulmonary venous return	OMIM:618313
Congenital Tracheomalacia	Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Patent ductus arteriosus, Partia...	ORPHA:95430
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Severe short stature, Abnormal cortical bone morphology	ORPHA:3344
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Emphysema, Arachnodactyly, Osteoporo...	ORPHA:558
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid...	ORPHA:261494
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Diaphragmatic eventration, Spinal muscular atrophy, Secundum atrial septal defect, Congestive hea...	OMIM:616866
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ...	OMIM:212093
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Tetanus	Tachycardia, Stiff neck, Elevated urinary norepinephrine level, Elevated urinary epinephrine leve...	ORPHA:3299
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Wide anterior fontanel, Patent ductus arteriosus, Growth delay, Decreased body wei...	OMIM:614886
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
High Altitude Pulmonary Edema	Tachycardia, Pulmonary edema	ORPHA:330012
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Coxa valga, Long fingers, Patent ductus...	OMIM:608149
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Tubulointerstitial fibrosis...	ORPHA:79259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Tortuous cerebral arteries, Osteopenia, Joint laxity, Unilateral renal agen...	OMIM:616603
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Abnormal systemic arterial morphology, Vesicoureteral reflux, Emphy...	ORPHA:90349
Stuve-Wiedemann Syndrome 1	Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Sh...	OMIM:601559
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the kidney, Raynau...	ORPHA:167635
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Secundum atrial septal defect, Patent ...	OMIM:617397
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at...	ORPHA:57777
Desmosterolosis	Increased bone mineral density, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, M...	ORPHA:35107
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap...	ORPHA:85166
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent...	OMIM:106700
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Sandal gap, Morgagni diaphragmatic...	OMIM:613177
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Graft Versus Host Disease	Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis, Pneumonia, Limited elbow m...	ORPHA:39812
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Hypospadias, Facial palsy, Multiple prenatal fractures, Flexion contract...	ORPHA:171430
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Short 4th toe, Atrial septal defect, Clinodactyly of the 5th finger, Prominent...	OMIM:615873
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Skeletal muscle atrophy, Short stature, Camptodactyly of ...	ORPHA:2990
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia...	OMIM:263800
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Patellar aplasia,...	ORPHA:85201
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Renal Fanconi syndrome, Glycosuria, Hypophosphatemic rickets	ORPHA:263455
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Short stature,...	ORPHA:1001
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Pulmonary hypoplasia	OMIM:618174
Pentalogy Of Cantrell	Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal agenesis, Congenit...	ORPHA:1335
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Absent middle phalanx of 3rd finger, Flexion c...	OMIM:308050
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Short stature, Proximal placement of thumb, Postnatal growth retardati...	OMIM:620113
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci...	OMIM:276700
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth	OMIM:613124
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Clinodactyly o...	OMIM:601163
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform asc...	OMIM:617168
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Osteoporosis	OMIM:601979
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodactyly ...	ORPHA:709
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Respir...	ORPHA:96179
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Decreased muscle mass, Postnatal growth retardation, Metaphyseal widening, Triangul...	ORPHA:73230
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polyda...	OMIM:616300
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion...	OMIM:239850
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Overlapping toe, Short stature, Tapered finger, Short thumb, Penoscrotal transpositi...	OMIM:619148
X Small Rings	Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, F...	ORPHA:96201
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Cerebral calcification, Short stature, Retinal telangiectas...	OMIM:612199
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Osteogenesis Imperfecta	Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho...	ORPHA:666
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal...	ORPHA:536471
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal aortic arch ...	ORPHA:2059
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Short stature, Sit...	ORPHA:1908
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular...	ORPHA:280365
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypop...	OMIM:151210
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg...	OMIM:232300
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Abnormality of the kidney	ORPHA:895
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Abnormal urinary color	ORPHA:90037
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally ...	OMIM:255320
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se...	OMIM:613795
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Abn...	ORPHA:477817
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Atelectasis, S...	OMIM:269860
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Keutel Syndrome	Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Cerebral calcific...	OMIM:245150
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary arter...	ORPHA:3342
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Rhabdomyolysis...	ORPHA:94093
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Heart block, Atrial septal defect, Vesicoureteral reflux,...	OMIM:617063
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmo...	OMIM:620025
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Flexion contracture, Emphysema, ...	OMIM:154700
Dent Disease 1	Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars...	OMIM:300009
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Short ...	ORPHA:140952
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Short stature, Rhabdomyosarcoma, Abnormal lun...	ORPHA:1052
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem...	ORPHA:249
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Spontaneous...	ORPHA:731
Porphyria Variegata	Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Chronic kidney disease,...	ORPHA:79473
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder disloc...	OMIM:245600
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Hypospadias, Sandal gap, Postaxial polydactyly, Preaxial polydac...	OMIM:612651
Down Syndrome	Hypoplastic iliac wing, Atrial septal defect, Short palm, Atrioventricular canal defect, Patent f...	OMIM:190685
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Splenomegaly, Oliguria, Bradycardia, Hypotension, R...	ORPHA:90051
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali...	OMIM:602668
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, G...	ORPHA:906
Tetrasomy 5P	Recurrent respiratory infections, Overlapping toe, Short hallux, Postnatal growth retardation, Co...	ORPHA:3309
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Myoglobinuria, Rhabdomyolysis, Ventricular tachy...	OMIM:616878
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Hardikar Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal...	OMIM:301068
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short stature, Osteolytic defects of the phalanges of the hand, Joint ...	ORPHA:2484
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirecti...	OMIM:619351
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmati...	OMIM:615524
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Generalized joint laxity, Hypermobility of interphalangeal joints, Short p...	ORPHA:508498
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ...	OMIM:616777
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Flexion contracture...	ORPHA:1865
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Hypoplastic right heart, Pulmonary artery atresia, Ventricul...	OMIM:616894
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Horseshoe kidney, Hypoplasia of pro...	ORPHA:2886
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Hypopla...	OMIM:312150
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Hypotension	ORPHA:79155
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retar...	ORPHA:90348
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Renal cyst, At...	OMIM:270400
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Short stature, Pulmonic st...	ORPHA:1131
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h...	OMIM:130050
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pu...	ORPHA:2470
Meester-Loeys Syndrome	Aortic dissection, Arachnodactyly, Short stature, Mitral valve prolapse, Ascending tubular aorta ...	OMIM:300989
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular tachycardia, Oliguria, Cardiomyo...	ORPHA:159
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Postaxial h...	OMIM:619879
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,...	OMIM:100800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Abnormal lung m...	ORPHA:141127
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia	ORPHA:90036
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Hypospadias, Tarsal synostosis, Short h...	ORPHA:90652
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Palpitations	OMIM:188580
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia, Abnormal urinary color	ORPHA:90033
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Renal insufficiency, Urinary in...	ORPHA:79276
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Hypopla...	OMIM:253290
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Arachnodactyly, Bicuspid aortic ...	ORPHA:536545
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Peripheral arterial sten...	ORPHA:217085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Craniosynosto...	ORPHA:453499
Congenital Myopathy 17	Diaphragmatic eventration, Overlapping toe, Tapered finger, Respiratory tract infection, Clinodac...	OMIM:618975
Pachydermoperiostosis	Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O...	ORPHA:2796
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap...	OMIM:614080
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arachnodactyly, Art...	ORPHA:284984
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneu...	OMIM:614437
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Preaxial polydactyly...	OMIM:615503
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Short long bone, Overgrowth, Disproportionate sho...	OMIM:224410
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Peripheral arterial sten...	ORPHA:217093
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Patent ductus arteriosus, Aplasia/Hy...	ORPHA:1112
Velocardiofacial Syndrome	Ventricular septal defect, Short stature, Interrupted aortic arch, Unilateral primary pulmonary d...	OMIM:192430
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Short stature, Recurrent fractures, Camptodactyly of f...	ORPHA:3206
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Rocker bottom foot, Ventricular septal defect, Metatarsus adductus, Wi...	OMIM:214100
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Hunter-Macdonald Syndrome	Aortic regurgitation, Epiphyseal dysplasia, Hypospadias, Bicuspid aortic valve, Short stature, Me...	OMIM:611962
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clinodactyly of the...	ORPHA:2001
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Arte...	OMIM:609192
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Abnormal cartilage morphology, Bone cyst, Oste...	ORPHA:2396
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Sanda...	OMIM:619127
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, Renal cortica...	OMIM:231680
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Dilated cardiomyopath...	ORPHA:401923
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bicuspid aortic valve, Short stature, Unilateral renal agenesis, Absent t...	OMIM:614900
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, Hypoplastic iliac wing, Atri...	ORPHA:96334
Stiff-Person Syndrome	Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia...	OMIM:184850
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Raine Syndrome	Bowing of the long bones, Hydroureter, Cerebral calcification, Short stature, Increased bone mine...	OMIM:259775
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonar...	OMIM:620306
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Short stature, Co...	OMIM:309801
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Short stature, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol	OMIM:229700
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin...	ORPHA:487796
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Wide anterior fontanel, Complete atrioventricular canal defect, Preaxial p...	OMIM:617925
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Joint laxity, Hypospadias, Br...	ORPHA:353281
Esophageal Atresia	Recurrent respiratory infections, Ventricular septal defect, Renal agenesis, Bronchitis, Laryngot...	ORPHA:1199
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Pleura...	ORPHA:244242
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Failure to thrive, Thin bony cortex, Joint stiffness	OMIM:230600
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of t...	ORPHA:1507
Atelosteogenesis Type Ii	Short phalanx of finger, Broad metacarpals, Short metacarpal, Hitchhiker thumb, Rhizomelia, Incre...	ORPHA:56304
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea...	ORPHA:805
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal corti...	OMIM:130650
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Bicuspid aortic valve, Mild postnatal growth retardation, Myocardial infarction, Cere...	OMIM:150230
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Short statu...	ORPHA:84064
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Hepatomegaly, Short stature, Abnormal mitral valve morpholog...	ORPHA:580
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Congenital diaphrag...	OMIM:200980
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol	ORPHA:348
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lung ...	ORPHA:818
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Bowing of the legs, Abnormal hand b...	OMIM:200600
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi...	OMIM:313850
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Osteoporosis, Increased susceptibility to fractures, Syn...	ORPHA:98849
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Renal insufficiency, Excessive bleeding afte...	ORPHA:99826
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Pat...	OMIM:617088
Meckel Syndrome, Type 1	Syndactyly, Patent ductus arteriosus, Postaxial foot polydactyly, Abnormal cardiac septum morphol...	OMIM:249000
Sarcoidosis	Heart block, Abnormal lung morphology, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstit...	ORPHA:797
Renal Agenesis	Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Renal age...	ORPHA:411709
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the...	OMIM:617895
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Short stature, Patent ductus art...	OMIM:614609
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter...	ORPHA:116
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia	OMIM:191830
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Generalized amyotroph...	ORPHA:994
Marshall-Smith Syndrome	Large sternal ossification centers, Distal widening of metacarpals, Coxa vara, Aspiration pneumon...	OMIM:602535
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgenesis	OMIM:267430
Osteopetrosis, Autosomal Recessive 7	Growth delay, Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Short stature, Unilateral renal agenesis, Congestive hear...	OMIM:181270
Legius Syndrome	Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Mit...	ORPHA:137605
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, ...	OMIM:194050
Desmosterolosis	Rhizomelia, Generalized osteosclerosis, Patent ductus arteriosus, Total anomalous pulmonary venou...	OMIM:602398
Rhabdoid Tumor	Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm	ORPHA:69077
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Proteinuria	ORPHA:35858
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Congenital hip dislocation, Short metacarpal, Bicuspid aorti...	OMIM:617137
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abno...	ORPHA:904
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Reduced bone mineral de...	ORPHA:881
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Joint l...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Joint l...	ORPHA:353277
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,...	OMIM:192350
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Microp...	OMIM:612289
Tetrasomy 9P	Myositis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Micropenis, Patent for...	ORPHA:3310
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl...	OMIM:271640
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601809
Hyperlysinemia	Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery h...	ORPHA:2203
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Postnatal growth retardation, Long penis...	ORPHA:508
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol...	OMIM:263520
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	OMIM:600001
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Sandal gap, Short stature, Congenital diaphragmatic hernia, 3-4 finger...	OMIM:612530
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Short stature, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Clubbing of fingers, C...	OMIM:605676
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Short stature, Rhizomelia, Generalized joint laxity, Decreased calvaria...	OMIM:613848
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Rocker bottom foot, Limb joint contracture, Wide anterior font...	OMIM:275210
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Hepatomegaly, Scapular winging, Tapered toe, Shoulder flexion contracture, Limb ...	OMIM:620369
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Increa...	ORPHA:2909
Gitelman Syndrome	Cerebral calcification, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nep...	ORPHA:358
Noonan Syndrome 1	Abnormal bleeding, Hypospadias, Ventricular septal defect, Short stature, Postnatal growth retard...	OMIM:163950
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Pulm...	OMIM:251230
Loeys-Dietz Syndrome	Abnormal bleeding, Tall stature, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arteria...	ORPHA:60030
1Q41Q42 Microdeletion Syndrome	Growth delay, Short stature, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:250999
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Finger...	ORPHA:221008
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Bilobed right lung, Renal cyst, Horseshoe kidney, Postaxial foot poly...	OMIM:612284
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Cerebral calcification, Osteomalacia, Flexion contracture, O...	ORPHA:2671
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Osteoporos...	ORPHA:254892
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Postnatal growth retardation, Humeror...	ORPHA:3404
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal ...	OMIM:619534
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Joint stiffness, Patent ductus arteriosus, Thin bony ...	OMIM:277600
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A...	OMIM:304120
Charge Syndrome	Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary artery atresia, ...	OMIM:214800
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Pulmonary hypoplasia, Skeletal...	OMIM:253310
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptodactyly of fing...	ORPHA:1662
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational age, Finger...	ORPHA:221016
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Severe short stature, Cranial hyperostosis, Limitation of joint m...	ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Thin b...	OMIM:309583
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Multicystic kidne...	ORPHA:79404
Penile Agenesis	Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Congenital diaphragm...	OMIM:301044
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Ankylosis, Flexion contr...	OMIM:616503
Plague	Abnormal bleeding, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Acute infe...	ORPHA:707
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hype...	OMIM:100300
Rh Deficiency Syndrome	Intrauterine growth retardation, Tachycardia, Hepatosplenomegaly	ORPHA:71275
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2140
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia	ORPHA:139411
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Atrial septal defect, Joint laxity, Bicuspid aortic valve, Ventricular septal defect,...	ORPHA:438213
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Intrauterine ...	OMIM:608013
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Congenital diaphragmatic hernia, Preaxial polydactyly, ...	OMIM:616546
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Cerebral calcification, Short stature, Small for gestational age, Ricke...	OMIM:613658
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Joint stiffness, Patent ductus arteriosus, Elbow flex...	OMIM:608328
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Arachnodactyly, Flexion contracture, Osteoporosis, Stroke-li...	ORPHA:86309
Oculodentodigital Dysplasia	Cerebral calcification, Camptodactyly of finger, Cranial hyperostosis, Hyperostosis, Abnormal cor...	ORPHA:2710
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Pulmonary hypoplasia, Tracheomalacia, Situs inversus totalis	OMIM:202650
Mirizzi Syndrome	Dark urine, Tachycardia	ORPHA:521219
Fryns Syndrome	Ureteral duplication, Atrial septal defect, Hypospadias, Rocker bottom foot, Proximal placement o...	OMIM:229850
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Vacterl With Hydrocephalus	Renal agenesis, Renal hypoplasia/aplasia, Hypoplasia of the radius, Hip dislocation, Tracheoesoph...	ORPHA:3412
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Growth delay, Camptodactyly, Double outlet righ...	OMIM:249420
Spondyloocular Syndrome	Osteopenia, Short stature, Thin bony cortex, Decreased body weight	OMIM:605822
Orofaciodigital Syndrome Type 4	Finger syndactyly, Recurrent respiratory infections, Severe short stature, Renal agenesis, Campto...	ORPHA:2753
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Renal agenesis,...	OMIM:256520
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Large for gestational age	OMIM:612731
Schinzel-Giedion Syndrome	Renal cyst, Tibial bowing, Micropenis, Hypospadias, Wide anterior fontanel, Sclerosis of skull ba...	ORPHA:798
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesic...	ORPHA:261537
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation ...	OMIM:220111
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Overlapping toe, Arachnodactyly, Postnatal growth retardation, Contracture of the d...	ORPHA:83617
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis bone ossi...	ORPHA:93271
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture,...	OMIM:619708
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesic...	ORPHA:261552
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Long fingers, Pate...	OMIM:613355
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Block vertebrae, Ectopic...	OMIM:164210
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Peripheral pulmonary vessel aplasia, Urethral at...	OMIM:273395
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Camptodactyly of finger, Rocker bottom foot, Elbow contra...	OMIM:208150
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis	OMIM:271520
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def...	OMIM:606170
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Short stature, Thin bony cortex	OMIM:619727
Yellow Fever	Abnormal bleeding, Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Excessive ble...	ORPHA:99829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy	OMIM:610131
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly...	ORPHA:2052
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Osteopor...	ORPHA:91347
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Cam...	OMIM:601803
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Renal agenesis, Pulmonary hypoplasia	ORPHA:1848
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Hypospadias, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the...	OMIM:219000
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst	OMIM:615636
Microphthalmia, Syndromic 1	Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Bicuspid aortic valve, Renal hypopl...	OMIM:309800
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Aspartylglucosaminuria	Arthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:93
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435

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 Mgp

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 Mgp.

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

Order Mouse and ES Cells

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.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us