TaoMedAI/RareMedData huggingface dataset:
Gene: KRT5
Phenotype: Milia (HP:0001056)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Parakeratosis (HP:0001036)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Fragile skin (HP:0001030)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Skin vesicle (HP:0200037)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Skin plaque (HP:0200035)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Papule (HP:0200034)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Onychomadesis (HP:0025088)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Gene: KRT5
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Skin erosion (HP:0200041)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Erythema (HP:0010783)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Scarring (HP:0100699)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Gene: KRT5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Tonofilament clumping (HP:0034067)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Tonofilament clumping (HP:0034067)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Photophobia (HP:0000613)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Anemia (HP:0001903)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Scrotal hyperpigmentation (HP:0012855)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Smooth tongue (HP:0010298)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Pruritus (HP:0000989)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Pruritus (HP:0000989)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Pruritus (HP:0000989)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Pruritus (HP:0000989)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Acne inversa (HP:0040154)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Epidermolysis bullosa simplex, Köbner type; Autosomal dominant generalized EBS, intermediate form; Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Epidermolysis bullosa simplex, Koebner type (ORPHA:79399)
Gene: KRT5
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Gene: KRT5
Phenotype: Alopecia (HP:0001596)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Alopecia (HP:0001596)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Growth delay (HP:0001510)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Growth delay (HP:0001510)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Growth delay (HP:0001510)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Keratoacanthoma (HP:0031525)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Hoarse voice (HP:0001609)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Hoarse cry (HP:0001615)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Erosion of oral mucosa (HP:0031446)
Associated disease: EBS-loc; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Localized epidermolysis bullosa simplex; Localized EBS (ORPHA:79400)
Gene: KRT5
Phenotype: Penile freckling (HP:0031447)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Mitten deformity (HP:0004057)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Anal margin squamous cell carcinoma (HP:0030442)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Abnormal epiglottis morphology (HP:0005483)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT5
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)