TaoMedAI/RareMedData huggingface dataset:
Gene: MYH7
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Stroke (HP:0001297)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Falls (HP:0002527)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Talipes cavus equinovarus (HP:0004696)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Limited neck flexion (HP:0005991)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Myalgia (HP:0003326)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Dyspnea (HP:0002094)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Toe extensor amyotrophy (HP:0011916)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Toe extensor amyotrophy (HP:0011916)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Chest pain (HP:0100749)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Scapuloperoneal amyotrophy (HP:0003697)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Scapuloperoneal amyotrophy (HP:0003697)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Pedal edema (HP:0010741)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Palpitations (HP:0001962)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Amyotrophy of ankle musculature (HP:0009031)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Short stature (HP:0004322)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Short stature (HP:0004322)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Pulmonary thromboembolism (HP:0034192)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT (OMIM:608358)
Gene: MYH7
Phenotype: Muscle fiber hyaline bodies (HP:0100306)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Imperforate tricuspid valve (HP:0011575)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Elevated jugular venous pressure (HP:0030848)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Ebstein anomaly of the tricuspid valve (HP:0010316)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Cyanosis (HP:0000961)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Absent muscle fiber merosin (HP:0030091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: High palate (HP:0000218)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: High palate (HP:0000218)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Fatigue (HP:0012378)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)
Gene: MYH7
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE (OMIM:255160)
Gene: MYH7
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Sudden death (HP:0001699)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYH7
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: MYH7
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: MYH7
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Ebstein anomaly of the tricuspid valve; Ebstein malformation of the tricuspid valve (ORPHA:1880)
Gene: MYH7
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1S (OMIM:613426)
Gene: MYH7
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYH7
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Laing distal myopathy; Distal myopathy type 1; MPD1 (ORPHA:59135)
Gene: MYH7
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, DISTAL, 1 (OMIM:160500)