TaoMedAI/RareMedData huggingface dataset:
Gene: KRT5
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Gene: KRT5
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KRT5
Phenotype: Erythematous papule (HP:0030350)
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: Hypermetropia (HP:0000540)
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: Upper limb pain (HP:0012513)
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: KRT6A
Phenotype: Eruptive vellus hair cyst (HP:0025248)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Cutaneous cyst (HP:0025245)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Natal tooth (HP:0000695)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Ear pain (HP:0030766)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Chapped lip (HP:0040181)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Alopecia (HP:0001596)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Gingivitis (HP:0000230)
Associated disease: PACHYONYCHIA CONGENITA 3 (OMIM:615726)
Gene: KRT6A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Hyperplastic callus formation (HP:0030268)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT6A
Phenotype: Paronychia (HP:0001818)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Eruptive vellus hair cyst (HP:0025248)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Cutaneous cyst (HP:0025245)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PACHYONYCHIA CONGENITA 4 (OMIM:615728)
Gene: KRT6B
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 4 (OMIM:615728)
Gene: KRT6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 4 (OMIM:615728)
Gene: KRT6B
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Folliculitis (HP:0025084)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Dry hair (HP:0011359)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Natal tooth (HP:0000695)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Natal tooth (HP:0000695)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Ear pain (HP:0030766)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PACHYONYCHIA CONGENITA 4 (OMIM:615728)
Gene: KRT6B
Phenotype: Alopecia (HP:0001596)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT6B
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Hyperplastic callus formation (HP:0030268)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Paronychia (HP:0001818)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT6B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT9
Phenotype: Hypergranulosis (HP:0025114)
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: KRT9
Phenotype: Abnormal fingernail morphology (HP:0001231)
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: KRT9
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
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: KRT9
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
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: KRT9
Phenotype: Clubbing (HP:0001217)
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: KRT9
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Localized epidermolytic hyperkeratosis (HP:0007559)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Knuckle pad (HP:0032541)
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: KRT9
Phenotype: Impaired tactile sensation (HP:0010830)
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: KRT9
Phenotype: Epidermal acanthosis (HP:0025092)
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: KRT9
Phenotype: Impaired temperature sensation (HP:0010829)
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: KRT9
Phenotype: Palmar hyperkeratosis (HP:0010765)
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: KRT9
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Hyperhidrosis (HP:0000975)
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: KRT9
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Gene: KRT9
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
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: KRT9
Phenotype: Hyperkeratosis (HP:0000962)
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: KRT9
Phenotype: Abnormal blistering of the skin (HP:0008066)
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: KRT9
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: KRT10
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Clubbing (HP:0001217)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
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: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Flexural lichenification (HP:0007453)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Gene: KRT10
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Infantile onset (HP:0003593)
Associated disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Gene: KRT10
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Conjunctival hamartoma (HP:0100780)
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: Erythroderma (HP:0001019)
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: Erythroderma (HP:0001019)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Erythroderma (HP:0001019)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Erythroderma (HP:0001019)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: ICHTHYOSIS HYSTRIX, LAMBERT TYPE (OMIM:146600)
Gene: KRT10
Phenotype: Skin ulcer (HP:0200042)
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: Skin erosion (HP:0200041)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (OMIM:607602)
Gene: KRT10
Phenotype: Keratinocyte vacuolization (HP:0034703)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Hypernatremic dehydration (HP:0004906)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT (OMIM:620150)
Gene: KRT10
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE (OMIM:620707)
Gene: KRT10
Phenotype: Nystagmus (HP:0000639)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)
Gene: KRT10
Phenotype: Ectropion (HP:0000656)
Associated disease: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (OMIM:609165)