Not currently registered for phenotyping at IMPC

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

Gene Summary

matrix Gla protein

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
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
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
Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi... OMIM:203500
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
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
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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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