TaoMedAI/RareMedData huggingface dataset:
Gene: COL6A2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Hip contracture (HP:0003273)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Pes valgus (HP:0008081)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Pes valgus (HP:0008081)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: BETHLEM MYOPATHY 1B (OMIM:620725)
Gene: COL6A2
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Reduced muscle collagen VI (HP:0030095)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Reduced muscle collagen VI (HP:0030095)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: High palate (HP:0000218)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Reduced maximal expiratory pressure (HP:0012497)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Torticollis (HP:0000473)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Torticollis (HP:0000473)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Short neck (HP:0000470)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B (OMIM:620727)
Gene: COL6A2
Phenotype: Short neck (HP:0000470)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOSCLEROSIS, AUTOSOMAL RECESSIVE (OMIM:255600)
Gene: COL6A2
Phenotype: Esotropia (HP:0000565)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Motor delay (HP:0001270)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Slender finger (HP:0001238)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Axial dystonia (HP:0002530)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Hypoventilation (HP:0002791)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Gowers sign (HP:0003391)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Long toe (HP:0010511)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Knee contracture (HP:0034671)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Ankle contracture (HP:0034677)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Scapular winging (HP:0003691)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Frequent falls (HP:0002359)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Action tremor (HP:0002345)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Action tremor (HP:0002345)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 27 (OMIM:616411)