TaoMedAI/RareMedData huggingface dataset:
Gene: ACTA1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Joint contracture (HP:0034392)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Chylothorax (HP:0010310)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Narrow face (HP:0000275)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Slender build (HP:0001533)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Bradycardia (HP:0001662)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Breech presentation (HP:0001623)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Breech presentation (HP:0001623)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Premature birth (HP:0001622)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: ACTA1
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: ACTA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Gene: ACTA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Gene: ACTA1
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Torticollis (HP:0000473)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: ACTA1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Gene: ACTA1
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Gene: ACTA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: Zebra body myopathy (ORPHA:97240)
Gene: ACTA1
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ACTA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: ACTA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: ACTA2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Seizure (HP:0001250)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ACTA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ACTA2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Dysgyria (HP:0032398)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MOYAMOYA DISEASE 5 (OMIM:614042)
Gene: ACTA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Tachypnea (HP:0002789)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Iris flocculi (HP:0500007)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Dilated left subclavian artery (HP:0031252)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ACTA2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: MOYAMOYA DISEASE 5 (OMIM:614042)
Gene: ACTA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ACTA2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ACTA2
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MOYAMOYA DISEASE 5 (OMIM:614042)
Gene: ACTA2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)