TaoMedAI/RareMedData huggingface dataset:
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
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: KRT14
Phenotype: Feeding difficulties (HP:0011968)
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: KRT14
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Milia (HP:0001056)
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: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Milia (HP:0001056)
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: KRT14
Phenotype: Milia (HP:0001056)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
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: KRT14
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
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: KRT14
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
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: KRT14
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Skin erosion (HP:0200041)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
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: KRT14
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
Phenotype: Tonofilament clumping (HP:0034067)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Hyperpigmentation in sun-exposed areas (HP:0005586)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Carious teeth (HP:0000670)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Carious teeth (HP:0000670)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Suprabasal cleavage (HP:0034194)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
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: KRT14
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Reticulate pigmentation of oral mucosa (HP:0012788)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Pruritus (HP:0000989)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
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: KRT14
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
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: KRT14
Phenotype: Dry skin (HP:0000958)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Alopecia (HP:0001596)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
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: KRT14
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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: KRT14
Phenotype: Growth delay (HP:0001510)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
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: KRT14
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Hoarse voice (HP:0001609)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT14
Phenotype: Hoarse cry (HP:0001615)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
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: KRT14
Phenotype: Genital blistering (HP:0031464)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
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)