TaoMedAI/RareMedData huggingface dataset:
Gene: KRT1
Phenotype: Concave nail (HP:0001598)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Palmoplantar scaling skin (HP:0025524)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Abnormal umbilicus morphology (HP:0001551)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
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: KRT2
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated disease: ICHTHYOSIS BULLOSA OF SIEMENS (OMIM:146800)
Gene: KRT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS BULLOSA OF SIEMENS (OMIM:146800)
Gene: KRT2
Phenotype: Acantholysis (HP:0100792)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Erythema (HP:0010783)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Edema (HP:0000969)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Thin skin (HP:0000963)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: SEI; Ichthyosis bullosa of Siemens; Superficial epidermolytic ichthyosis (ORPHA:455)
Gene: KRT3
Phenotype: Epiphora (HP:0009926)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 2 (OMIM:618767)
Gene: KRT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 2 (OMIM:618767)
Gene: KRT3
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 2 (OMIM:618767)
Gene: KRT3
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: CORNEAL DYSTROPHY, MEESMANN, 2 (OMIM:618767)
Gene: KRT4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WHITE SPONGE NEVUS 1 (OMIM:193900)
Gene: KRT4
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: WHITE SPONGE NEVUS 1 (OMIM:193900)
Gene: KRT4
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: WHITE SPONGE NEVUS 1 (OMIM:193900)
Gene: KRT5
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Sepsis (HP:0100806)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
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: KRT5
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: KRT5
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: KRT5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE (OMIM:619588)
Gene: KRT5
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Gene: KRT5
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: KRT5
Phenotype: Mottled pigmentation of the trunk and proximal extremities (HP:0007438)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Reticulated skin pigmentation (HP:0007427)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
Phenotype: Acral blistering (HP:0031045)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Death in childhood (HP:0003819)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Intra-epidermal blistering (HP:0033802)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Intra-epidermal blistering (HP:0033802)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Gene: KRT5
Phenotype: Intra-epidermal blistering (HP:0033802)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Arthritis (HP:0001369)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
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: KRT5
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Erythema migrans (HP:0031180)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Erythema migrans (HP:0031180)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Gene: KRT5
Phenotype: Discrete 2 to 5-mm hyper- and hypopigmented macules (HP:0007494)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated disease: DOWLING-DEGOS DISEASE 1 (OMIM:179850)
Gene: KRT5
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE (OMIM:619588)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DOWLING-DEGOS DISEASE 1 (OMIM:179850)
Gene: KRT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Digital pitting scar (HP:0031293)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
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: KRT5
Phenotype: Generalized reticulate brown pigmentation (HP:0007599)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
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: KRT5
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
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: KRT5
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: KRT5
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: KRT5
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: KRT5
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: KRT5
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
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: KRT5
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
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: KRT5
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: KRT5
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: KRT5
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE (OMIM:619588)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
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: KRT5
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Gene: KRT5
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: KRT5
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Gene: KRT5
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Gene: KRT5
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EBS with circinate migratory erythema; Epidermolysis bullosa simplex with circinate migratory erythema; EBS-migr (ORPHA:158681)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Palmar pits (HP:0010610)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Gene: KRT5
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: KRT5
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: KRT5
Phenotype: Milia (HP:0001056)
Associated disease: EBS with mottled pigmentation; EBS-MP; Epidermolysis bullosa simplex with mottled pigmentation (ORPHA:79397)