TaoMedAI/RareMedData huggingface dataset:
Gene: COL7A1
Phenotype: Dysphagia (HP:0002015)
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: Lamina lucida cleavage (HP:0003341)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Esophageal stricture (HP:0002043)
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: Esophageal stricture (HP:0002043)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormality of vitamin metabolism (HP:0100508)
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: Decreased circulating vitamin D concentration (HP:0100512)
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: Decreased circulating vitamin D concentration (HP:0100512)
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: Esophageal stenosis (HP:0010450)
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: Esophageal ulceration (HP:0004791)
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: Decreased plasma total carnitine (HP:0011936)
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: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Nail dysplasia (HP:0002164)
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: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Keloids (HP:0010562)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Abnormal subungual morphology (HP:0009723)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Lichenification (HP:0100725)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Foot joint contracture (HP:0008366)
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: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Oral mucosal blisters (HP:0200097)
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: Oral mucosal blisters (HP:0200097)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Feeding difficulties (HP:0011968)
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: Recurrent loss of toenails and fingernails (HP:0008390)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Recurrent loss of toenails and fingernails (HP:0008390)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
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: Milia (HP:0001056)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
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: Milia (HP:0001056)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Milia (HP:0001056)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Aplasia cutis congenita (HP:0001057)
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: Aplasia cutis congenita (HP:0001057)
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: Aplasia cutis congenita (HP:0001057)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA (OMIM:604129)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
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: Fragile skin (HP:0001030)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
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: Fragile skin (HP:0001030)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Corneal erosion (HP:0200020)
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: Corneal erosion (HP:0200020)
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: Skin vesicle (HP:0200037)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Skin plaque (HP:0200035)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Papule (HP:0200034)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
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: Atrophic scars (HP:0001075)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Skin erosion (HP:0200041)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Skin erosion (HP:0200041)
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: Skin erosion (HP:0200041)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Skin erosion (HP:0200041)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Erythema (HP:0010783)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Scarring (HP:0100699)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Decreased serum zinc (HP:0031831)
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)