TaoMedAI/RareMedData huggingface dataset:
Gene: COL7A1
Phenotype: Decreased serum zinc (HP:0031831)
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: Chronic kidney disease (HP:0012622)
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: Abnormal scalp morphology (HP:0001965)
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: Abnormal scalp morphology (HP:0001965)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Anemia (HP:0001903)
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: Anemia (HP:0001903)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Anemia (HP:0001903)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Anemia (HP:0001903)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Anemia (HP:0001903)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Anemia (HP:0001903)
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: Renal amyloidosis (HP:0001917)
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: Localized skin lesion (HP:0011355)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Generalized abnormality of skin (HP:0011354)
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: Generalized abnormality of skin (HP:0011354)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Carious teeth (HP:0000670)
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: Carious teeth (HP:0000670)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Carious teeth (HP:0000670)
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: Carious teeth (HP:0000670)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Decreased body weight (HP:0004325)
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: Dermal atrophy (HP:0004334)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Hypoalbuminemia (HP:0003073)
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: Gastrointestinal inflammation (HP:0004386)
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: Gastrointestinal inflammation (HP:0004386)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Malnutrition (HP:0004395)
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: Malnutrition (HP:0004395)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Malnutrition (HP:0004395)
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 circulating selenium concentration (HP:0031903)
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: Abnormal circulating selenium concentration (HP:0031903)
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 the wrist (HP:0003019)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Anxiety (HP:0000739)
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: Anxiety (HP:0000739)
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: Depression (HP:0000716)
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: Depression (HP:0000716)
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: Gastrostomy tube feeding in infancy (HP:0011471)
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: IgA deposition in the glomerulus (HP:0000794)
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: Delayed puberty (HP:0000823)
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: Delayed puberty (HP:0000823)
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: Ankyloglossia (HP:0010296)
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: Ankyloglossia (HP:0010296)
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: Onychogryphosis of fingernail (HP:0040036)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
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: Increased circulating IgE concentration (HP:0003212)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
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: Hyperkeratotic papule (HP:0045059)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Atypical scarring of skin (HP:0000987)
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: Atypical scarring of skin (HP:0000987)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Pruritus (HP:0000989)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Pruritus (HP:0000989)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Pruritus (HP:0000989)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
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: Palmoplantar keratoderma (HP:0000982)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Thin skin (HP:0000963)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Osteoporosis (HP:0000939)
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: Osteopenia (HP:0000938)
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: Abnormal blistering of the skin (HP:0008066)
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: Abnormal blistering of the skin (HP:0008066)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
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 blistering of the skin (HP:0008066)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS (OMIM:132000)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (OMIM:131705)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (OMIM:131750)
Gene: COL7A1
Phenotype: Alopecia (HP:0001596)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
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: Abnormal respiratory system morphology (HP:0012252)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)