TaoMedAI/RareMedData huggingface dataset:
Gene: MYH3
Phenotype: Triangular face (HP:0000325)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Breech presentation (HP:0001623)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Pointed chin (HP:0000307)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Strabismus (HP:0000486)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Webbed neck (HP:0000465)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Webbed neck (HP:0000465)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Webbed neck (HP:0000465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Webbed neck (HP:0000465)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Pes planus (HP:0001763)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Gene: MYH3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Gene: MYH3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: MYH3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Telecanthus (HP:0000506)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: MYH3
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Gene: MYH3
Phenotype: Ptosis (HP:0000508)
Associated disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Gene: MYH3
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Ptosis (HP:0000508)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: MYH3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Gene: MYH3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MYH3
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: MYH3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYH6
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 3 (OMIM:614089)
Gene: MYH6
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Death in middle age (HP:0033764)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO (OMIM:614090)
Gene: MYH6
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Sudden death (HP:0001699)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: ATRIAL SEPTAL DEFECT 3 (OMIM:614089)
Gene: MYH6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Gene: MYH6
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH6
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH6
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Gene: MYH6
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH6
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: MYH7
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Right axis deviation (HP:0033567)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Poor head control (HP:0002421)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)