TaoMedAI/RareMedData huggingface dataset:
Gene: COL17A1
Phenotype: Macular hyperpigmented dermopathy (HP:0007412)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Acral blistering (HP:0031045)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Palmar hyperhidrosis (HP:0006089)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Keloids (HP:0010562)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Milia (HP:0001056)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Milia (HP:0001056)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Milia (HP:0001056)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Ocular pain (HP:0200026)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Ocular pain (HP:0200026)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Skin detachment (HP:0032156)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Photophobia (HP:0000613)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Photophobia (HP:0000613)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Anemia (HP:0001903)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Anemia (HP:0001903)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Irregular astigmatism (HP:0031792)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Atrophic, patchy alopecia (HP:0004529)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Gene: COL17A1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Genital blistering (HP:0031464)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Anonychia (HP:0001798)
Associated disease: Late-onset junctional epidermolysis bullosa; JEB-lo; Epidermolysis bullosa progressiva; Late-onset JEB (ORPHA:79406)
Gene: COL17A1
Phenotype: Anonychia (HP:0001798)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: COL17A1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COL17A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Gene: COL17A1
Phenotype: Fragile nails (HP:0001808)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Gene: COL17A1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: COL17A1
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Epithelial recurrent erosion dystrophy; Recurrent hereditary corneal erosions; Dystrophia Smolandiensis; ERED; Dystrophia Helsinglandica (ORPHA:293381)
Gene: COMP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Short femoral neck (HP:0100864)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Waddling gait (HP:0002515)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Waddling gait (HP:0002515)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Waddling gait (HP:0002515)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Waddling gait (HP:0002515)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Hand paresthesia (HP:0033660)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Positive Phalen test (HP:0033673)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)