TaoMedAI/RareMedData huggingface dataset:
Gene: ABCC9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Hypotelorism (HP:0000601)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Broad hallux (HP:0010055)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Short hallux (HP:0010109)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Short hallux (HP:0010109)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Narrow chest (HP:0000774)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Narrow chest (HP:0000774)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Broad ribs (HP:0000885)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Congenital, generalized hypertrichosis (HP:0004540)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Epicanthus (HP:0000286)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Congenital hypertrophy of left ventricle (HP:0005129)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Large for gestational age (HP:0001520)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Incisor macrodontia (HP:0011081)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Fatigue (HP:0012378)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Flat face (HP:0012368)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Long philtrum (HP:0000343)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Short neck (HP:0000470)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Enlarged posterior fossa (HP:0005445)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CANTU SYNDROME (OMIM:239850)