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 (849 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Keutel Syndrome		Short distal phalanx of finger, Short stature, Tracheal atresia, Recurrent sinusitis, Calcificati...	ORPHA:85202
Keutel Syndrome		Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Calcification of the auricu...	OMIM:245150

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

Disease	Matching phenotypes	Source
Arterial Calcification, Generalized, Of Infancy, 1	Periarticular calcification, Carotid artery calcification, Hypophosphatemic rickets, Short statur...	OMIM:208000
Alkaptonuria	Intervertebral disk calcification, Nephrolithiasis, Aortic valve calcification, Joint stiffness, ...	ORPHA:56
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Calcification of the aorta, Central retinal vessel vascula...	OMIM:208060
Alkaptonuria	Nephrolithiasis, Aortic valve calcification, Decreased glomerular filtration rate, Intervertebral...	OMIM:203500
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Myocardial infarction, Coronary artery calcification, Nephrocalcinosis,...	OMIM:614473
Rare Circulatory System Disease	Intermittent claudication, Abnormality of finger, Arterial calcification, Abnormal metatarsal mor...	ORPHA:98028
Calciphylaxis	Secondary hyperparathyroidism, Ectopic ossification, Arterial calcification	ORPHA:280062
Hereditary Arterial And Articular Multiple Calcification Syndrome	Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Abnormal cardiovascula...	ORPHA:289601
Pulmonary Alveolar Microlithiasis	Interlobular septal thickening, Stippled calcification in carpal bones, Subpleural interstitial t...	ORPHA:60025
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform...	OMIM:175050
Calcification Of Joints And Arteries	Intervertebral disk calcification, Intermittent claudication, Femoral arterial calcification, Tib...	OMIM:211800
Congenital Aortic Valve Stenosis	Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste...	ORPHA:3093
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Basal ganglia calcification, Short stature, Calcification of the small brain vessels, Dense calci...	OMIM:114100
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Atrial septal defect, Tall stature, Hepatomegaly, Pulmonary emb...	ORPHA:90308
Generalized Arterial Calcification Of Infancy	Stroke, Medial calcification of medium-sized arteries, Calcification of the auricular cartilage, ...	ORPHA:51608
Gaucher Disease Type 3	Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va...	ORPHA:77261
Distal Trisomy 14Q	Short stature, Abnormality of the upper urinary tract, Abnormal lung lobation, Patent ductus arte...	ORPHA:1705
Telangiectasia, Hereditary Hemorrhagic, Type 1	Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo...	OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4	High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil...	OMIM:610655
Hypophosphatemic Rickets	Renal phosphate wasting, Joint stiffness, Fibrous dysplasia of the bones, Calcification of the ao...	ORPHA:437
Gaucher Disease	Hepatomegaly, Osteopenia, Hematuria, Abnormal bone structure, Osteolysis, Proteinuria, Abnormal m...	ORPHA:355
Atypical Werner Syndrome	Telangiectasia of the skin, Finger clinodactyly, Glycosuria, Osteolytic defects of the phalanges ...	ORPHA:79474
Mucopolysaccharidosis Type 7	Joint stiffness, Arteriovenous malformation, Abnormal hip bone morphology, Splenomegaly, Abnormal...	ORPHA:584
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron...	ORPHA:860
Homozygous Familial Hypercholesterolemia	Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden...	ORPHA:391665
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Arteriovenous malformation, Spinal arteriovenous malformat...	ORPHA:53721
Telangiectasia, Hereditary Hemorrhagic, Type 2	Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta...	OMIM:600376
Aortic Valve Disease 2	Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm	OMIM:614823
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Obesity	OMIM:264010
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Singleton-Merten Syndrome 1	Expanded metacarpals with widened medullary cavities, Aortic arch calcification, Tendon rupture, ...	OMIM:182250
Gaucher Disease, Type Iiic	Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Calcification of the aor...	OMIM:231005
Familial Multiple Nevi Flammei	Arteriovenous malformation, Cerebral calcification, Intracranial hemorrhage, Pulmonary embolism, ...	ORPHA:624
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Subcutaneous calcification, Peripheral arteriovenous fistula, Promine...	ORPHA:141179
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis	OMIM:615269
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Arteriovenous malformation, Nephrotic syndrome, Periphera...	ORPHA:90307
Capillary Malformation-Arteriovenous Malformation	Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri...	ORPHA:137667
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Joint stiffness, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Abnormal hip bone mor...	ORPHA:1166
Familial Bicuspid Aortic Valve	Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,...	ORPHA:402075
Immunodeficiency 12	Growth delay, Osteoporosis	OMIM:615468
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Arteriovenous malformation, Reduced bone mineral density, Venous insufficien...	ORPHA:137608
Adams-Oliver Syndrome	Short distal phalanx of finger, Absent hand, Arteriovenous malformation, Abnormal pulmonary valve...	ORPHA:974
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Subcutaneous calcification, Peripheral arteriovenous fistula, Promine...	ORPHA:141184
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal hip bone morphology, Genu varum, Abnormal aortic arch morpho...	ORPHA:1110
Pelizaeus-Merzbacher Disease	Joint stiffness, Arteriovenous malformation, Short stature, Abnormality of the urinary system, Re...	ORPHA:702
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arteriovenous malformation, Arrhythmia, Cerebral ischemia, Hand polyd...	ORPHA:60040
Arterial Dissection-Lentiginosis Syndrome	Arteriovenous malformation, Arterial dissection	ORPHA:1682
Wyburn-Mason Syndrome	Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h...	ORPHA:53719
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Cystic renal dysplasia, E...	OMIM:615415
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Calcification of the aorta, Hep...	ORPHA:2072
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
Phakomatosis Pigmentovascularis	Cerebral calcification, Arteriovenous malformation, Reduced bone mineral density	ORPHA:2875
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Pseudoxanthoma Elasticum, Forme Fruste	Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Calcificatio...	OMIM:177850
Gaucher Disease, Type Iii	Vascular calcification, Hepatomegaly, Splenomegaly, Short stature	OMIM:231000
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Arteriovenous malformation, Subcutaneous hemorrhage, Reduced bone min...	ORPHA:1556
Capillary Malformation-Arteriovenous Malformation 1	Arteriovenous malformation, Arteriovenous fistula	OMIM:608354
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven...	ORPHA:1354
Melorheostosis	Joint stiffness, Peripheral arteriovenous fistula, Increased bone mineral density, Arthritis, Hyp...	ORPHA:2485
Blue Rubber Bleb Nevus	Arteriovenous malformation, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Double Outlet Right Ventricle	Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ...	ORPHA:3426
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib...	OMIM:614954
Truncus Arteriosus	Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu...	ORPHA:3384
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total...	OMIM:615382
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Abnormal mitral valve morphology, Stroke, Limitation of movement at ankles, Myoc...	ORPHA:740
Coronary Arterial Fistula	Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo...	ORPHA:2041
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Carotid artery dilatation, Short stature, Osteopenia, Recurrent upper respiratory tract infection...	ORPHA:391487
Cerebral Arteriovenous Malformation	Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:46724
Hereditary Hemorrhagic Telangiectasia	Nephrolithiasis, Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous...	ORPHA:774
Trimethylaminuria	Splenomegaly, Tachycardia, Recurrent pneumonia, Trimethylaminuria, Hypertension	OMIM:602079
Juvenile Polyposis Syndrome	Growth delay, Arteriovenous malformation, Abnormal onset of bleeding, Hepatic arteriovenous malfo...	ORPHA:2929
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Unilateral Polymicrogyria	Abnormal heart morphology, Epistaxis, Stroke, Pulmonary arteriovenous malformation	ORPHA:268943
Kaposiform Lymphangiomatosis	Abnormality of femur morphology, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Fractu...	ORPHA:464329
Cardiomyopathy, Dilated, 2G	Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M...	OMIM:619897
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial...	ORPHA:2790
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy	Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature	OMIM:608278
Atrial Septal Defect, Sinus Venosus Type	Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol...	ORPHA:99105
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Limitation of joint mobility, Osteoporosis	ORPHA:3294
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno...	OMIM:265450
Holt-Oram Syndrome	Anomalous pulmonary venous return, Absent thumb, Atrioventricular canal defect, Down-sloping shou...	ORPHA:392
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Heart murmur, Basilar artery calcification, Transient ischemic attack, Cardiomegaly...	ORPHA:365
Aicardi-Goutières Syndrome	Multiple joint contractures, Micropenis, Cerebral calcification, Calcification of the aorta, Shor...	ORPHA:51
Renal Tubular Dysgenesis	Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Pulmonary hypopla...	ORPHA:3033
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat...	OMIM:613496
Pulmonary Arteriovenous Malformation	Telangiectasia, Bacterial endocarditis, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Abnorm...	ORPHA:2038
Fanconi Anemia	Abnormality of femur morphology, Arteriovenous malformation, Abnormal cardiac septum morphology, ...	ORPHA:84
Storm Syndrome	Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen...	OMIM:185069
Absence Of The Pulmonary Artery	Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R...	ORPHA:980
Atrial Standstill	Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven...	ORPHA:1344
Currarino Syndrome	Hypospadias, Arteriovenous malformation, Vesicoureteral reflux, Hypoplasia of penis	ORPHA:1552
Meacham Syndrome	Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ...	OMIM:608978
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis	ORPHA:564003
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Tapered finger, Ventricular s...	OMIM:613870
Classic Homocystinuria	Joint stiffness, Arteriovenous malformation, Recurrent fractures, Hepatomegaly, Disproportionate ...	ORPHA:394
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Arteriovenous malformation, Tall stature, Short stature, Subcutaneous hemorrhage...	ORPHA:109
Cardiac Diverticulum	Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart...	ORPHA:1686
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Stroke, Absent ankle pulse, Myocardial infarction, Limb muscle weak...	ORPHA:90064
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Polyuria, Pulmonary arteriovenous malformation, Lower limb muscle weakne...	OMIM:606721
Partial Atrioventricular Septal Defect	Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is...	ORPHA:1330
Osteoporosis	Osteoporosis	OMIM:166710
Sclerosteosis	Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis	ORPHA:3152
Variant Abeta2M Amyloidosis	Cardiovascular calcification, Chronic kidney disease, Cardiac amyloidosis, Abnormal skeletal musc...	ORPHA:314652
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ...	ORPHA:1120
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Cerebral calcification, Enlarged kidney, Proteinuria, Nephrotic syndrome, Flared il...	OMIM:617303
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal bone ossification, Short stature, Abnormal trabecular b...	ORPHA:79106
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas	Arteriovenous fistula	OMIM:600419
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short humerus, Enlarg...	OMIM:314390
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Increased bone mineral density, Short stature	ORPHA:2204
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,...	ORPHA:2410
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Hennekam Syndrome	Arteriovenous malformation, Finger syndactyly, Chylothorax, Mild postnatal growth retardation, Sp...	ORPHA:2136
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag...	OMIM:618845
Parkes weber syndrome	Arteriovenous fistula	OMIM:608355
Scimitar Syndrome	Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal...	ORPHA:185
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat...	OMIM:600884
Snakebite Envenomation	Muscle fiber necrosis, Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen...	ORPHA:449285
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Calc...	OMIM:211900
Hyaline Fibromatosis Syndrome	Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion...	OMIM:228600
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia	ORPHA:1208
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation	OMIM:114065
Buschke-Ollendorff Syndrome	Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Short stature, Flexion cont...	ORPHA:1306
Peripartum Cardiomyopathy	Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Stroke-like ...	ORPHA:563
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Short stature, Limitation of joint mobility, Pathologic fracture	ORPHA:166277
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density	ORPHA:970
Dural Sinus Malformation	Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor...	ORPHA:97339
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Organic aciduria, Fatty replacement of skeletal muscle, Cardiomyopa...	OMIM:255100
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Ghosal Hematodiaphyseal Dysplasia	Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:1802
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de...	OMIM:613426
Basal Ganglia Calcification, Idiopathic, 1	Calcification of the small brain vessels, Dense calcifications in the cerebellar dentate nucleus,...	OMIM:213600
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Pulmonary hypoplasia, Small...	OMIM:184260
His Bundle Tachycardia	Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst...	OMIM:613854
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Reduced bone mineral density, Short stature, Thin bony cortex, Decreased cir...	OMIM:619795
Cockayne Syndrome Type 3	Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Mild postnatal growth ret...	ORPHA:90324
Variegate Porphyria	Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tac...	OMIM:176200
Congenitally Corrected Transposition Of The Great Arteries	Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab...	ORPHA:216694
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor...	ORPHA:2306
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Thymic Aplasia With Fetal Death	Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Renal agenesis	OMIM:274210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Joint stiffness, Renal hypoplasia/aplasia, Renal agenesis, Abnorm...	ORPHA:2516
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Tachycardia, Foam cells, Acute infectious pneumonia	ORPHA:264675
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir...	OMIM:600785
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Left bundle branch block, Stroke, Premature ventricular contraction...	OMIM:601154
Cardiac-Urogenital Syndrome	Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Prolonged bleed...	OMIM:618280
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty, Hypogonadism	OMIM:615270
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation, Abnormal trabecular bone morphology, Thin bony ...	ORPHA:75508
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Short stature, Sudden cardiac death, Tachycardia, Coarctation of aorta, Cardiomegal...	OMIM:614921
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Diaphanospondylodysostosis	Nephrogenic rest, Tracheomalacia, Absent in utero rib ossification, Cystic renal dysplasia, Enlar...	OMIM:608022
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla...	OMIM:616733
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Horseshoe kidney, Intra...	OMIM:601186
Left Ventricular Noncompaction 1	Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Left...	OMIM:604169
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Hadziselimovic Syndrome	Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular s...	OMIM:612946
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric...	OMIM:306955
H Syndrome	Recurrent fractures, Micropenis, Short stature, Abnormality of the kidney, Hepatosplenomegaly, Ca...	ORPHA:168569
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e...	ORPHA:730
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular filtration r...	ORPHA:2260
Congenital Fibrinogen Deficiency	Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Right ventricular hypertrophy, Microp...	ORPHA:335
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Micropenis, Short stature, Mitral regurgitation, Pulmonary insuffi...	ORPHA:2326
Cocaine Intoxication	Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Pneumothorax, Myocardial infarct...	ORPHA:90068
Tricuspid Atresia	Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu...	ORPHA:1209
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Atrial septal defect, Brachydactyly, Pulmonary artery atresia, Truncus ar...	ORPHA:401935
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Foix-Alajouanine Syndrome	Arteriovenous fistula, Lower limb muscle weakness, Functional abnormality of the bladder, Urinary...	ORPHA:79093
Metatropic Dysplasia	Joint stiffness, Coarse metaphyseal trabecularization, Severe short stature, Camptodactyly of fin...	ORPHA:2635
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd...	OMIM:618316
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn...	OMIM:610476
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Absence of pubertal development, Osteopenia, Osteoporosis, Hypogonadism	OMIM:615267
Superficial Siderosis	Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr...	ORPHA:247245
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Tapered finger, Enlarged kidney, Intracerebral periventricular calcifications, Card...	OMIM:608836
Proteus Syndrome	Arteriovenous malformation, Disproportionate tall stature, Craniosynostosis, Calvarial hyperostos...	ORPHA:744
Glomuvenous Malformation	Arteriovenous malformation, Abnormal renal morphology, Abnormal digit morphology, Venous malforma...	ORPHA:83454
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lung lobation, Abnormal metacarpa...	ORPHA:2631
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial...	OMIM:604772
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enlarged kidney,...	OMIM:252500
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Flexion contracture, Skeletal muscle hypertrophy, Splenomegaly, Osteopenia, Muscula...	OMIM:613327
Andersen-Tawil Syndrome	Bidirectional ventricular ectopy, Prolonged QT interval, Renal tubular dysfunction, Torsade de po...	ORPHA:37553
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar...	OMIM:613759
Angioosteohypertrophic Syndrome	Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Hand olig...	ORPHA:2346
Timothy Syndrome	Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Pat...	OMIM:601005
Brugada Syndrome	Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi...	ORPHA:130
Cockayne Syndrome	Hepatomegaly, Abnormal renal physiology, Cerebral calcification, Limb hypertonia, Subcortical whi...	ORPHA:191
Thanatophoric Dysplasia	Intrauterine growth retardation, Disproportionate short-limb short stature, Joint stiffness, Atri...	ORPHA:2655
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper...	OMIM:618719
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Hepatomegaly, Tach...	ORPHA:137675
Keutel Syndrome	Short distal phalanx of finger, Short stature, Tracheal atresia, Recurrent sinusitis, Calcificati...	ORPHA:85202
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ...	ORPHA:99050
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, Rhizomelia, ...	ORPHA:79328
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Stroke, Tall stature, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient...	ORPHA:91387
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal...	OMIM:617478
Aortic Aneurysm, Familial Thoracic 4	Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Bicuspid aortic v...	OMIM:132900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Proteus Syndrome	Calvarial hyperostosis, Thin bony cortex, Venous malformation, Mandibular hyperostosis, Facial hy...	OMIM:176920
Diabetic Embryopathy	Renal hypoplasia/aplasia, Tall stature, Micropenis, Aplasia/Hypoplasia of the abdominal wall musc...	ORPHA:1926
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Atrial septal defect, Slender finger, Long fingers, Patent ductus arterios...	OMIM:613355
Osteogenesis Imperfecta, Type Vii	Coxa vara, Wide anterior fontanel, Bowing of the legs, Recurrent fractures, Short stature, Femora...	OMIM:610682
Lymphoid Interstitial Pneumonia	Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Multiple pulmona...	ORPHA:79128
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Hemorrhagic Fever-Renal Syndrome	Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneumonia, Decreased urine ...	ORPHA:340
Atrioventricular Septal Defect, Susceptibility To, 2	Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo...	OMIM:606217
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Patent duc...	ORPHA:228190
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Clinodactyly of the 5th finger, Bicuspid aortic valve, Pseudocoarctation of the aorta,...	OMIM:604381
Pulmonary Capillary Hemangiomatosis	Interlobular septal thickening, Pulmonary edema, Hemothorax, Diffuse alveolar hemorrhage, Right v...	ORPHA:199241
Meacham Syndrome	Pulmonary sequestration, Anomalous pulmonary venous return, Aortic valve stenosis, Hypoplasia of ...	ORPHA:3097
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar...	OMIM:619902
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial...	OMIM:263200
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat...	OMIM:614980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter...	ORPHA:286
Incessant Infant Ventricular Tachycardia	Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ...	ORPHA:45453
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Nephrolithiasis, Clinodactyly of the 5th finger, Hydroureter, Tapered finger, Vesicoureteral refl...	OMIM:617219
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Caffey Disease	Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ...	ORPHA:1310
Achondrogenesis Type 2	Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short stature, Hypo...	ORPHA:93296
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n...	OMIM:612158
Caffey Disease	Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica...	OMIM:114000
Congenital Rubella Syndrome	Atrial septal defect, Hepatomegaly, Short stature, Splenomegaly, Ventricular septal defect, Paten...	ORPHA:290
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Orthostatic hypotension, Osteopenia, Phalangeal dislocation, Arterial r...	ORPHA:287
Grant Syndrome	Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification, Short st...	ORPHA:2097
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect, Alveolar cap...	OMIM:265380
Klippel-Trenaunay-Weber Syndrome	Hand oligodactyly, Syndactyly, Arteriovenous fistula, Hand polydactyly, Macrodactyly	OMIM:149000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Heparan sulfate excretion in urine, Enlarged kidney, Proteinuria, Abnorma...	ORPHA:505248
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Pulmonary hypoplasia, Knee flexion con...	OMIM:616531
Renal Nutcracker Syndrome	Vulval varicose vein, Orthostatic hypotension, Tachycardia, Hematuria, Microscopic hematuria, Syn...	ORPHA:71273
Fixed Subaortic Stenosis	Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu...	ORPHA:3092
Fibromuscular Dysplasia, Arterial	Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse...	OMIM:135580
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre...	ORPHA:1329
Ogden Syndrome	Congenital hip dislocation, Enlarged kidney, Broad hallux, Left atrial enlargement, Ventricular s...	OMIM:300855
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu...	ORPHA:83451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom...	OMIM:609040
Distal Tetrasomy 15Q	Atrial septal defect, Flexion contracture, Craniosynostosis, Arachnodactyly, Abnormality of the k...	ORPHA:314588
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Tachycardia, Hypotension, Respiratory tract infection, Pneumonia, Cardiac arrest...	ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 11	Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ...	OMIM:612098
Phaver Syndrome	Joint stiffness, Broad hallux phalanx, Camptodactyly of finger, Coarctation of aorta, Ulnar devia...	ORPHA:2876
Dextrocardia	Congenital malformation of the great arteries, Abnormality of the ureter, Congenital hip dislocat...	ORPHA:1666
Cardiomyopathy, Familial Hypertrophic, 10	Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation...	OMIM:608758
Alg3-Cdg	Macroglossia, Osteopenia, Coarctation of the descending aortic arch, Abnormality of limb bone mor...	ORPHA:79321
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ...	ORPHA:2141
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non...	OMIM:613424
Aa Amyloidosis	Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment eleva...	ORPHA:263297
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi...	OMIM:620067
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Abnormal cardiac septum morphology, Tracheal atresia, Bilateral lung agenesis, Coarctation of aor...	OMIM:601612
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia...	OMIM:616117
Primary Pulmonary Hypoplasia	Intrauterine growth retardation, Secundum atrial septal defect, Ureteral stenosis, Abnormal hemid...	ORPHA:2257
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Nephroblastoma, Overgrowth, Enlarged kidney, Abnormal venous morpholo...	ORPHA:276280
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Enlarged kidney, Situs i...	OMIM:208540
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Disproportionate tall stature, Ascending aortic dissection, Arthritis, Aor...	OMIM:619825
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti...	OMIM:614021
Aorto-Ventricular Tunnel	Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm...	ORPHA:3400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,...	OMIM:612474
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction...	ORPHA:542323
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal de...	ORPHA:49827
Atrial Septal Defect, Ostium Secundum Type	Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Pne...	ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco...	OMIM:613838
Aapoaiv Amyloidosis	Chronic kidney disease, Left bundle branch block, Sinus bradycardia, Abnormal renal medulla morph...	ORPHA:439232
Extracranial Carotid Artery Aneurysm	Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total...	ORPHA:494424
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, ...	OMIM:600081
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Short...	ORPHA:500
Eisenmenger Syndrome	Angina pectoris, Supraventricular arrhythmia, Stroke, Hepatomegaly, Atrioventricular canal defect...	ORPHA:97214
Atrial Septal Defect, Coronary Sinus Type	Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve...	ORPHA:99104
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Protein...	OMIM:171420
16P12.1P12.3 Triplication Syndrome	2-3 toe syndactyly, Atrial septal defect, Prominent fingertip pads, Clinodactyly of the 4th finge...	ORPHA:485405
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short toe, Clinodactyly of the 5th finger, Short stature, Pulmonic stenosis, Spina bifida occulta...	OMIM:617877
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Disproportionate tall stature, Arachnodactyly, Aortic tortuosity, Ascen...	OMIM:616166
8P23.1 Microdeletion Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Shor...	ORPHA:251071
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Acetabular spurs, Absent tibia, Metaphyseal spurs, Postaxial polydactyly, Preaxial polydactyly, F...	OMIM:613091
Familial Aortic Dissection	Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro...	ORPHA:229
Glycogen Storage Disease Ia	Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Short stature, Hypertension,...	OMIM:232200
Tako-Tsubo Cardiomyopathy	Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva...	ORPHA:66529
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility, Short stature	ORPHA:1486
Distal Monosomy 15Q	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno...	ORPHA:1596
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Glycogen accumulation in muscle fiber lysosomes, Chronic kidney disease, Recurrent my...	ORPHA:368
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ...	OMIM:619657
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Epis...	OMIM:171300
Craniofaciofrontodigital Syndrome	Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility, Osteopenia, Ve...	ORPHA:363705
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Renal insufficiency, Abnormal aortic morphology, Hypertension, Cardiomyopathy	ORPHA:3222
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Micropenis, Flared ...	OMIM:616897
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long hallux, Tibial bowing, Macroglossia, Proportionate tall stature, Multicystic kidney dysplasi...	ORPHA:500095
Familial Dysautonomia	Recurrent fractures, Orthostatic hypotension, Abnormality of the kidney, Tachycardia, Abnormal pl...	ORPHA:1764
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no...	OMIM:601493
Mosaic Trisomy 1	2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, Pulmonary hypoplasia, Comp...	ORPHA:1692
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort...	OMIM:615779
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Cutaneous syndactyly, Brachydactyly, Ureteral...	OMIM:236500
Hutchinson-Gilford Progeria Syndrome	Growth delay, Premature coronary artery atherosclerosis, Osteolysis, Generalized osteoporosis, Pr...	OMIM:176670
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Autosomal Recessive Spondylocostal Dysostosis	Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Short stature, Hypospadias, C...	ORPHA:2311
Familial Isolated Restrictive Cardiomyopathy	Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P...	ORPHA:75249
16P13.11 Microduplication Syndrome	Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot...	ORPHA:261243
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins, Micropenis	OMIM:618021
Mosaic Trisomy 16	Single coronary artery origin, Atrial septal defect, Hypospadias, Syndactyly, Coarctation of aort...	ORPHA:1708
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy	ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria, Pulmonary arterial ...	OMIM:619003
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect...	ORPHA:99125
Gorham-Stout Disease	Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the lower limbs, Osteope...	ORPHA:73
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fi...	OMIM:300707
Pericardial And Diaphragmatic Defect	Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital...	ORPHA:2847
Gillessen-Kaesbach-Nishimura Syndrome	Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Flexion co...	OMIM:263210
Igg4-Related Kidney Disease	Abnormal ureter morphology, Urethritis, Ureteral obstruction, Hematuria, Renal interstitial immun...	ORPHA:449395
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:618187
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul...	OMIM:616867
45,X/46,Xy Mixed Gonadal Dysgenesis	Urogenital sinus anomaly, Chordee, Bicuspid aortic valve, Micropenis, Short stature, Hypospadias,...	ORPHA:1772
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven...	ORPHA:26793
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Overgrowth, Pulmonary hypoplasia, Bowing of the long b...	OMIM:224410
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Absence of pubertal development, Osteoporosis, Diabetes mellitus, ...	OMIM:610628
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Intrauterine growth retardation, Abnormal left ventricular functio...	OMIM:301056
Cholera	Abnormality of renal excretion, Stroke, Hypovolemic shock, Aspiration pneumonia, Tachycardia, Hyp...	ORPHA:173
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy	ORPHA:276575
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Tachycardia, Recurrent urinary tract infections, Myositis, Myocarditis, Hypotensio...	ORPHA:36234
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy	ORPHA:276580
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:616276
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Tachycardia, Abnormal heart morphology	ORPHA:79264
Larsen-Like Syndrome, Lethal Type	Pulmonary insufficiency, Pulmonary hypoplasia, Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased circulating cortisol level, Increased body weight, Osteoporosis, Mac...	OMIM:615954
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo...	OMIM:618780
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Short stature, Craniosynostosis, Macroscopic hematuria, Membranoproliferativ...	ORPHA:251004
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent...	OMIM:264700
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Tall stature, Bruising susceptibility, Arachnodactyly, Aortic...	OMIM:614816
Cat Eye Syndrome	Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Short stature, Pulmonic stenosis...	OMIM:115470
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Micropenis, Short stature, Hypospadias, Brachydactyly, Broad thu...	OMIM:300978
Tatton-Brown-Rahman Syndrome	Short toe, Atrial septal defect, Widely spaced toes, Tricuspid regurgitation, Proportionate tall ...	ORPHA:404443
Pagod Syndrome	Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Hypoplastic left heart, Short stature,...	ORPHA:991
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal development, Osteopenia, A...	ORPHA:785
Surfactant Metabolism Dysfunction, Pulmonary, 1	Interlobular septal thickening, Desquamative interstitial pneumonitis, Intraalveolar phospholipid...	OMIM:265120
Contractural Arachnodactyly, Congenital	Disproportionate tall stature, Osteopenia, Increased upper to lower segment ratio, Ulnar deviatio...	OMIM:121050
Primary Ciliary Dyskinesia	Double outlet right ventricle, Abnormal heart morphology, Anomalous pulmonary venous return, Recu...	ORPHA:244
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter...	OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy...	OMIM:604400
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Intrauterine growth retardation, Lower limb muscle weakness	OMIM:619737
Hereditary Coproporphyria	Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Nephropat...	ORPHA:79273
Scorpion Envenomation	Bundle branch block, Ketonuria, Pulmonary edema, Stroke, Premature ventricular contraction, ST se...	ORPHA:466677
Lethal Congenital Contracture Syndrome 10	Torticollis, Adducted thumb, Overlapping fingers, Ventricular septal defect, Stiff neck, Pulmonar...	OMIM:617022
Crimean-Congo Hemorrhagic Fever	Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Hematuria, Myocarditis, Pr...	ORPHA:99827
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia...	OMIM:613251
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis...	OMIM:178600
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Left atrial enlargement, Right bundle branch block, Atrioventricular block...	ORPHA:99106
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Short stature, Postaxial hand polydactyly, Ventricular septal defect, Renal...	ORPHA:75389
Right Atrial Isomerism	Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F...	OMIM:208530
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Internally rotated shoulders, Flexion contracture, Scapular winging, Camptodacty...	OMIM:617468
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi...	OMIM:613751
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Abnormal cartilage matrix, Abnormal bone structure, Pulmonary hyp...	ORPHA:86822
Aorta Coarctation	Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d...	ORPHA:1457
Alagille Syndrome 2	Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten...	OMIM:610205
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect...	OMIM:617912
3C Syndrome	Abnormal mitral valve morphology, Aortic valve stenosis, Hypoplasia of penis, Atrial septal defec...	ORPHA:7
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Degcags Syndrome	Hepatomegaly, Abnormal renal medulla morphology, Craniosynostosis, Osteopenia, Ventricular septal...	OMIM:619488
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ...	OMIM:611528
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple...	ORPHA:45452
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Tibial bowing, Radial bowing, Splenomegaly, Cerebral calcification, Abnormally ossified vertebrae...	ORPHA:3035
Cardiomyopathy, Familial Hypertrophic, 4	Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran...	OMIM:115197
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure t...	ORPHA:289157
Serkal Syndrome	Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Pulmonic stenosis, Renal...	ORPHA:139466
Cleft Palate, Cardiac Defects, And Mental Retardation	2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial septal defect, Short ...	OMIM:600987
Simpson-Golabi-Behmel Syndrome, Type 1	Short sternum, Hepatomegaly, Tall stature, 2-3 finger syndactyly, Enlarged kidney, Ventricular se...	OMIM:312870
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Tachycardia, Hepatomegaly, Syncope	ORPHA:324575
Heterotaxy, Visceral, 5, Autosomal	Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula...	OMIM:270100
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia	ORPHA:3032
Congenital Factor X Deficiency	Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos...	ORPHA:328
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Dicarboxylic acidur...	OMIM:212138
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Postaxial polydactyly, Short stature, Hypospadias, Brachydactyly,...	OMIM:614091
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Increased bone mineral density, Ventricular arrhythmia, Calci...	ORPHA:36913
Tularemia	Pleural effusion, Tachycardia, Pneumonia	ORPHA:3392
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac...	OMIM:241530
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce...	ORPHA:2235
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Clubbing of fingers, ...	OMIM:605676
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short 1st metacarpal, Cone-shaped epiphysis, Moyamoya phenomenon, Proximal femoral epiphysiolysis...	OMIM:210720
Fanconi Anemia, Complementation Group B	Absent thumb, Micropenis, Renal agenesis, Tracheoesophageal fistula, Coarctation of aorta, Abnorm...	OMIM:300514
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Abnormal renal physiology, Orthostatic hypotension, Tachy...	OMIM:223900
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney, Postaxial hand polydacty...	OMIM:200995
Chops Syndrome	Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Short stature, Aspiration pne...	OMIM:616368
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Bifid humerus, Short middle phalanx of finger, Sandal gap, Pul...	OMIM:256050
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Ethylene Glycol Poisoning	Renal tubular dysfunction, Pulmonary edema, Facial palsy, Tachycardia, Hematuria, Hypotension, At...	ORPHA:31826
Marden-Walker Syndrome	Wide anterior fontanel, Joint contracture of the hand, Micropenis, Arachnodactyly, Hypospadias, C...	OMIM:248700
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent...	OMIM:277440
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr...	ORPHA:2299
Cutis Laxa, Autosomal Recessive, Type Ic	Bladder diverticulum, Tracheomalacia, Sandal gap, Vascular dilatation, Pulmonary hypoplasia, Emph...	OMIM:613177
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinoda...	OMIM:300049
Saul-Wilson Syndrome	Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha...	OMIM:618150
Greenberg Dysplasia	Laryngeal calcification, Anterior rib punctate calcifications, Hepatomegaly, Rhizomelia, Pulmonar...	OMIM:215140
Supravalvular Aortic Stenosis	Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ...	OMIM:185500
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri...	OMIM:615770
Noonan Syndrome 9	Short stature, Pulmonic stenosis, Hydroureter, Coarctation of aorta, Ventricular septal defect, P...	OMIM:616559
Methimazole Embryofetopathy	Hypospadias, Tracheoesophageal fistula, Coarctation of aorta, Ventricular septal defect, Intraute...	ORPHA:1923
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac...	OMIM:300554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope	OMIM:611938
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Autosomal Recessive Cutis Laxa Type 1	Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Supravalvular aortic steno...	ORPHA:90349
Czeizel-Losonci Syndrome	Ectrodactyly, Split foot, Congenital megaureter, Tracheoesophageal fistula, 2-3 finger syndactyly...	ORPHA:2437
Heterotaxy, Visceral, 7, Autosomal	Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao...	OMIM:616749
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P...	OMIM:208500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo...	OMIM:610489
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor...	ORPHA:363618
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Arachnodactyly, Hypospadias...	OMIM:617602
Caudal Regression Syndrome	Joint stiffness, Abnormal iliac wing morphology, Renal agenesis, Abnormal vertebral segmentation ...	ORPHA:3027
Glycogen Storage Disease Ib	Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Short stature, Splenomegaly,...	OMIM:232220
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Recurrent fractures, Abnormality of finger, Abnormality of toe, Hypophosphatemic ri...	OMIM:163200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os...	ORPHA:371428
Cardiomyopathy, Dilated, 1P	Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure	OMIM:609909
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C...	OMIM:619343
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pa...	OMIM:600460
Atelosteogenesis Type I	Abnormal ossification involving the femoral head and neck, Short femur, Neonatal short-trunk shor...	ORPHA:1190
Marfan Syndrome	Disproportionate tall stature, Osteopenia, Aortic tortuosity, Arthralgia/arthritis, Spontaneous p...	ORPHA:558
Grange Syndrome	Recurrent fractures, Bicuspid aortic valve, Coronary artery stenosis, Syndactyly, Brachydactyly, ...	OMIM:602531
Congenital Tracheomalacia	Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega...	ORPHA:95430
Tropical Endomyocardial Fibrosis	Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce...	ORPHA:75565
Relapsing Fever	Abnormal bleeding, Abnormality of the urinary system, Tachycardia, Hematuria, Hypotension, Acute ...	ORPHA:91547
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Mercury Poisoning	Interstitial pneumonitis, Tachycardia, Hypotension, Acute kidney injury, Hypertension	ORPHA:330021
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri...	OMIM:616249
Pallister-Hall-Like Syndrome	Micropenis, Renal dysplasia, Postaxial hand polydactyly, Pulmonary hypoplasia, Hip dislocation, A...	OMIM:241800
Alport Syndrome	Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl...	ORPHA:63
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Syncope, Tachycardia, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalang...	OMIM:192445
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia	OMIM:614096
Scleromyxedema	Stroke, Raynaud phenomenon, Abnormal skeletal muscle morphology, Abnormality of the kidney, Abnor...	ORPHA:167635
Diamond-Blackfan Anemia 20	Total anomalous pulmonary venous return, Acetabular dysplasia	OMIM:618313
Atrial Septal Defect 8	Anomalous pulmonary venous return, Atrial septal defect	OMIM:614433
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega...	ORPHA:555874
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Abnormality of the thyroid gland, Severe short stature	ORPHA:3344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ...	OMIM:610193
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Disproportionate tall stature, Osteopenia, Aortic dissection, Hip subluxation, Limb muscle weakne...	ORPHA:1900
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp...	ORPHA:93108
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Hyperphalangy of the 2nd finger, Ulnar deviation of the 2nd finge...	OMIM:616145
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ...	OMIM:612124
Kleefstra Syndrome	Bicuspid aortic valve, Hypoplasia of penis, Macroglossia, Micropenis, Short stature, Hypospadias,...	ORPHA:261494
Tetanus	Tachycardia, Hypertension, Elevated urinary epinephrine, Stiff neck, Elevated urinary norepinephr...	ORPHA:3299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pulmonary venous hypertension, Hepatomegaly, Osteopenia, Gout, Enlarged kidney, Proteinuria, Hype...	ORPHA:79259
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia...	OMIM:611812
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri...	OMIM:614916
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Anomalous pulmonary venous return, Patent ductus arteriosus, T...	ORPHA:2184
Kagami-Ogata Syndrome	Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ...	OMIM:608149
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V...	OMIM:603830
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Wide anterior fontanel, Decreased body weight, Short stature, Pate...	OMIM:614886
Wild Type Attr Amyloidosis	Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfu...	ORPHA:330001
Familial Dilated Cardiomyopathy	Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva...	ORPHA:217607
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Stroke, Slender long bones with narrow diaphyses, Craniosynostosis, ...	ORPHA:536467
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula...	OMIM:618920
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy	ORPHA:104
Cardiomyopathy, Dilated, 1G	Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 17	Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac...	OMIM:613873
Stuve-Wiedemann Syndrome 1	Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte...	OMIM:601559
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
Arterial Tortuosity Syndrome	Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Pulmonary a...	OMIM:208050
Atrial Fibrillation, Familial, 10	Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr...	OMIM:614022
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Short stature, Small hand, Coronal craniosynostosis, Ventricular septal def...	OMIM:145420
Pseudo-Torch Syndrome 2	Petechiae, Secundum atrial septal defect, Cerebral hemorrhage, Hepatomegaly, Cerebral calcificati...	OMIM:617397
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphyseal cupping, H...	ORPHA:85166
Blomstrand Lethal Chondrodysplasia	Metaphyseal cupping, Neonatal short-limb short stature, Increased bone mineral density, Flared me...	ORPHA:50945
15Q11.2 Microdeletion Syndrome	Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total...	ORPHA:261183
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Tracheobronchomalacia, Patent duct...	OMIM:617751
Hydrocephalus With Associated Malformations	Tibial bowing, Short lower limbs, Pulmonary hypoplasia, Lower limb undergrowth, Intrauterine grow...	OMIM:236640
Desmosterolosis	Anomalous pulmonary venous return, Severe short stature, Renal hypoplasia/aplasia, Increased bone...	ORPHA:35107
Cirrhotic Cardiomyopathy	Right atrial enlargement, Pulmonary edema, Hepatomegaly, Abnormal bleeding, Left ventricular hype...	ORPHA:57777
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card...	ORPHA:300751
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati...	OMIM:616866
Mosaic Variegated Aneuploidy Syndrome 2	Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Atrial septal defect, Sho...	OMIM:614114
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Atrial septal defect, Micropenis, Short stature, Coarctation of aorta, Tapered f...	OMIM:617159
Gitelman Syndrome	Chondrocalcinosis, Polyuria, Hypocalciuria, Nocturia, Palpitations, Hypotension, Rhabdomyolysis, ...	OMIM:263800
Meier-Gorlin Syndrome 7	Bowing of the legs, Wide anterior fontanel, 2-3 toe syndactyly, Atrial septal defect, Micropenis,...	OMIM:617063
2Q37 Microdeletion Syndrome	Clinodactyly of the 5th finger, Short metacarpal, Congenital diaphragmatic hernia, Short stature,...	ORPHA:1001
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ...	OMIM:614779
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent...	OMIM:106700
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hepatomegaly, Tachycardia, Glycosuria, Renal Fanconi syndrome, Proteinuria	ORPHA:263455
Severe Congenital Nemaline Myopathy	Facial diplegia, Nemaline bodies, Flexion contracture, Micropenis, Adducted thumb, Hypospadias, A...	ORPHA:171430
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Hypospadias, Short 5th finger, Ventricular septal defect, Tracheobronchoma...	ORPHA:500159
Osteopathia Striata-Cranial Sclerosis Syndrome	Large iliac wing, Severe short stature, Aortic valve stenosis, Increased bone mineral density, Ce...	ORPHA:2780
Pentalogy Of Cantrell	Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Renal age...	ORPHA:1335
Genitopatellar Syndrome	Hip contracture, Atrial septal defect, Short stature, Hypoplastic ilia, Multicystic kidney dyspla...	ORPHA:85201
Catecholaminergic Polymorphic Ventricular Tachycardia	Sudden cardiac death, Ventricular tachycardia, Syncope	ORPHA:3286
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Aplasia/Hyp...	OMIM:609945
Cantu Syndrome	Bicuspid aortic valve, Broad first metatarsal, Congenital hypertrophy of left ventricle, Metaphys...	OMIM:239850
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Sy...	OMIM:601163
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Laryngeal calcification, Calcaneal epiphyseal stippling, Postnata...	ORPHA:79345
Maternal Uniparental Disomy Of Chromosome 2	Chordee, Clinodactyly of the 5th finger, Hypospadias, Renal dysplasia, Contractures of the large ...	ORPHA:96179
X Small Rings	Mitral stenosis, Bicuspid aortic valve, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Reduc...	ORPHA:96201
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome	Generalized osteoporosis, Osteoporosis	OMIM:601220
Heterotaxy, Visceral, 12, Autosomal	Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup...	OMIM:619702
Atrial Standstill 1	Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela...	OMIM:108770
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Abnormal cardiac septum morphology, Congenital hip dislocation, Hypoplastic pelvis, Pulmonary hyp...	OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal ...	ORPHA:2990
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Patent ductus arteriosus after birth at term, Second de...	OMIM:618782
Ventricular Tachycardia, Familial	Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block	OMIM:192605
Graft Versus Host Disease	Dupuytren contracture, Hepatosplenomegaly, Tachycardia, Limited shoulder movement, Myositis, Limi...	ORPHA:39812
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Distally placed thumb, Short stature, Hypospadias, Cutaneous syndactyly, Small t...	OMIM:619148
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90037
Multisystemic Smooth Muscle Dysfunction Syndrome	Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu...	OMIM:613834
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri...	OMIM:607450
Osteogenesis Imperfecta	Abnormality of femur morphology, Femoral bowing, Osteopenia, Genu valgum, Aortic dissection, Pulm...	ORPHA:666
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Vasculitis	OMIM:601979
Osteogenesis Imperfecta, Type Xviii	Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis	OMIM:617952
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth	OMIM:613124
Familial Cerebral Saccular Aneurysm	Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor...	ORPHA:231160
Long Qt Syndrome 13	Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro...	OMIM:613485
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy

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