TaoMedAI/RareMedData huggingface dataset:
Gene: ABCC6
Phenotype: Vomiting (HP:0002013)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Postural instability (HP:0002172)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Gangrene (HP:0100758)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Striae distensae (HP:0001065)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Medial calcification of large arteries (HP:0004966)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Medial calcification of large arteries (HP:0004966)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Generalized arterial calcification (HP:0004940)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Abnormal retinal artery morphology (HP:0000630)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Macular degeneration (HP:0000608)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Macular degeneration (HP:0000608)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Short stature (HP:0004322)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Irritability (HP:0000737)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Abnormal calcification of the carpal bones (HP:0009164)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Arterial calcification (HP:0003207)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Arterial calcification (HP:0003207)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Cutis laxa (HP:0000973)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Edema (HP:0000969)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Cyanosis (HP:0000961)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: White oral mucosal macule (HP:0033026)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Retinal peau d'orange (HP:0033027)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Retinal peau d'orange (HP:0033027)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Kyphosis (HP:0002808)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Peau d'orange (HP:0025533)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Redundant skin (HP:0001582)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Abdominal aortic calcification (HP:0031313)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Carotid artery calcification (HP:0031314)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: High palate (HP:0000218)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Yellow papule (HP:0025507)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Yellow papule (HP:0025507)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Ascites (HP:0001541)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCC6
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Angina pectoris (HP:0001681)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Angina pectoris (HP:0001681)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Cardiogenic shock (HP:0030149)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ABCC6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Gene: ABCC6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Myocardial calcification (HP:0006690)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: ABCC6
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ABCC6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Gene: ABCC6
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ABCC6
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)