TaoMedAI/RareMedData huggingface dataset:
Gene: SFTPB
Phenotype: Pulmonary opacity (HP:0031457)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Tachycardia (HP:0001649)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Bradycardia (HP:0001662)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Premature birth (HP:0001622)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Absent bronchoalveolar dimeric surfactant-protein B (HP:0032981)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Nonspecific interstitial pneumonia (HP:0033584)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Sepsis (HP:0100806)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Clubbing (HP:0001217)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Intralobular septal thickening (HP:0033638)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Cystic pattern on pulmonary HRCT (HP:0025394)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Hypotension (HP:0002615)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Tachypnea (HP:0002789)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Tachypnea (HP:0002789)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Dyspnea (HP:0002094)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Pneumonia (HP:0002090)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Desquamative interstitial pneumonitis (HP:0005942)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Atelectasis (HP:0100750)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Type II pneumocyte hyperplasia (HP:0033328)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Cough (HP:0012735)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Nasal flaring (HP:0030863)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Cyanosis (HP:0000961)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Cyanosis (HP:0000961)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Tachycardia (HP:0001649)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Bradycardia (HP:0001662)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Premature birth (HP:0001622)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPC
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPC
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPC
Phenotype: Absent bronchoalveolar surfactant-protein C (HP:0032980)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Hypoxemia (HP:0012418)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (OMIM:610913)
Gene: SFTPC
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SGCA
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2D; Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3; LGMD due to alpha-sarcoglycan deficiency; LGMD type 2D; Limb-girdle muscular dystrophy type 2D; Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency; LGMD2D; Alpha-sarcoglycanopathy; Alpha-sarcoglycan-related LGMD R3 (ORPHA:62)
Gene: SGCA
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 (OMIM:608099)
Gene: SGCB
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Waddling gait (HP:0002515)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)
Gene: SGCB
Phenotype: Pelvic girdle muscle atrophy (HP:0008988)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Gene: SGCB
Phenotype: Gowers sign (HP:0003391)
Associated disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Limb-girdle muscular dystrophy type 2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Beta-sarcoglycanopathy; LGMD type 2E; LGMD2E; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; LGMD due to beta-sarcoglycan deficiency (ORPHA:119)