TaoMedAI/RareMedData huggingface dataset:
Gene: COL12A1
Phenotype: Motor delay (HP:0001270)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Motor delay (HP:0001270)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Motor delay (HP:0001270)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
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: COL12A1
Phenotype: Areflexia (HP:0001284)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Areflexia (HP:0001284)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Slender finger (HP:0001238)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
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: COL12A1
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: COL12A1
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: COL12A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
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: COL12A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
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: COL12A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
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: COL12A1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Stooped posture (HP:0025403)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
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: COL12A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
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: COL12A1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
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: COL12A1
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: COL12A1
Phenotype: Long toe (HP:0010511)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
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: COL12A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Facial palsy (HP:0010628)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Scapular winging (HP:0003691)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
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: COL12A1
Phenotype: Frequent falls (HP:0002359)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
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: COL12A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Gene: COL12A1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
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: COL12A1
Phenotype: Increased muscle lipid content (HP:0009058)
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: COL12A1
Phenotype: Difficulty running (HP:0009046)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
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: COL12A1
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Curved toe phalanx (HP:0010176)
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: COL12A1
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Myopathy (HP:0003198)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
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: COL12A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Pallor (HP:0000980)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Soft skin (HP:0000977)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Pes valgus (HP:0008081)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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: COL12A1
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
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)