TaoMedAI/RareMedData huggingface dataset:
Gene: KRT10
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Short stature (HP:0004322)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Hyperparakeratosis (HP:0040009)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Poor appetite (HP:0004396)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Pruritus (HP:0000989)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Gene: KRT10
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Gene: KRT10
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Scaling skin (HP:0040189)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Strabismus (HP:0000486)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Weight loss (HP:0001824)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT12
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Epiphora (HP:0009926)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Nonprogressive (HP:0003680)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT12
Phenotype: Punctate opacification of the cornea (HP:0007856)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Gene: KRT13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WHITE SPONGE NEVUS 2 (OMIM:615785)
Gene: KRT13
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: WHITE SPONGE NEVUS 2 (OMIM:615785)
Gene: KRT13
Phenotype: Hyperparakeratosis (HP:0040009)
Associated disease: WHITE SPONGE NEVUS 2 (OMIM:615785)
Gene: KRT13
Phenotype: Edema (HP:0000969)
Associated disease: WHITE SPONGE NEVUS 2 (OMIM:615785)
Gene: KRT14
Phenotype: Nevus (HP:0003764)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Sepsis (HP:0100806)
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: Foot pain (HP:0025238)
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: Global developmental delay (HP:0001263)
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 fingernail morphology (HP:0001231)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Palmoplantar blistering (HP:0007446)
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: Reticulated skin pigmentation (HP:0007427)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Reticulated skin pigmentation (HP:0007427)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Acral blistering (HP:0031045)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Craniosynostosis (HP:0001363)
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: Plantar hyperkeratosis (HP:0007556)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Plantar hyperkeratosis (HP:0007556)
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: Plantar hyperkeratosis (HP:0007556)
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: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Decreased number of sweat glands (HP:0007500)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Focal friction-related palmoplantar hyperkeratosis (HP:0007497)
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: Depigmentation/hyperpigmentation of skin (HP:0007483)
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: Adermatoglyphia (HP:0007455)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Gene: KRT14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Abnormality of the dentition (HP:0000164)
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: Distal lower limb amyotrophy (HP:0008944)
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: Malalignment of the great toenail (HP:0031282)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Enamel hypoplasia (HP:0006297)
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: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Generalized reticulate brown pigmentation (HP:0007599)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Generalized reticulate brown pigmentation (HP:0007599)
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: Swelling of proximal interphalangeal joints (HP:0006253)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
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: Skin fragility with non-scarring blistering (HP:0007585)
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: Reticular hyperpigmentation (HP:0007588)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Aplasia cutis congenita on trunk or limbs (HP:0007589)
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: Aplasia cutis congenita on trunk or limbs (HP:0007589)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Bronchomalacia (HP:0002780)
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: Recurrent infections (HP:0002719)
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: Lamina lucida cleavage (HP:0003341)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Lamina lucida cleavage (HP:0003341)
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: Lamina lucida cleavage (HP:0003341)
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: Heat intolerance (HP:0002046)
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: Heat intolerance (HP:0002046)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Acute episodes of neuropathic symptoms (HP:0003489)
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: Ventriculomegaly (HP:0002119)
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: Nail dysplasia (HP:0002164)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Paresthesia (HP:0003401)
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: Infantile onset (HP:0003593)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Nail dystrophy (HP:0008404)
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: Nail dystrophy (HP:0008404)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT14
Phenotype: Hypomelanotic macule (HP:0009719)
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 of scalp (HP:0002293)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
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: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Gene: KRT14
Phenotype: Oral mucosal blisters (HP:0200097)
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: Oral mucosal blisters (HP:0200097)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)