TaoMedAI/RareMedData huggingface dataset:
Gene: COL6A3
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
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: COL6A3
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: COL6A3
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: COL6A3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Primary dystonia, DYT27 type (ORPHA:464440)
Gene: COL6A3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
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: COL6A3
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
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: COL6A3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Joint contracture (HP:0034392)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Hip contracture (HP:0003273)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
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: COL6A3
Phenotype: Pes valgus (HP:0008081)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
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: COL6A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
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: COL6A3
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Kyphosis (HP:0002808)
Associated disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Gene: COL6A3
Phenotype: Kyphosis (HP:0002808)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
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: COL6A3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Hip subluxation (HP:0030043)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
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: COL6A3
Phenotype: Micrognathia (HP:0000347)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
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: COL6A3
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: COL6A3
Phenotype: Torticollis (HP:0000473)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
Phenotype: Torticollis (HP:0000473)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Gene: COL6A3
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 27 (OMIM:616411)
Gene: COL6A3
Phenotype: Short neck (HP:0000470)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A3
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: COL6A3
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: COL6A3
Phenotype: Esotropia (HP:0000565)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL7A1
Phenotype: Nevus (HP:0003764)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Acral blistering (HP:0031045)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Acral blistering (HP:0031045)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Sub-lamina densa cleavage (HP:0033803)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Sub-lamina densa cleavage (HP:0033803)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Sub-lamina densa cleavage (HP:0033803)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Crusting erythematous dermatitis (HP:0007473)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8 (OMIM:607523)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Abnormality of head or neck (HP:0000152)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Vaginal stricture (HP:0025416)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Constipation (HP:0002019)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Abnormal esophagus morphology (HP:0002031)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Abnormal esophagus morphology (HP:0002031)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: COL7A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)