TaoMedAI/RareMedData huggingface dataset:
Gene: KRT14
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT14
Phenotype: Abnormal epiglottis morphology (HP:0005483)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT14
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Gene: KRT14
Phenotype: Fragile nails (HP:0001808)
Associated disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Gene: KRT14
Phenotype: Fragile nails (HP:0001808)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Epidermolysis bullosa simplex, Dowling-Meara type; Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis (ORPHA:79396)
Gene: KRT14
Phenotype: Ridged nail (HP:0001807)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Gene: KRT14
Phenotype: Ridged nail (HP:0001807)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Onycholysis (HP:0001806)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
Phenotype: Absent toenail (HP:0001802)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Gene: KRT14
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Naegeli syndrome; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
Gene: KRT14
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: KRT14
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: KRT14
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: KRT16
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: KRT16
Phenotype: Eruptive vellus hair cyst (HP:0025248)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Cutaneous cyst (HP:0025245)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
Phenotype: Perioral hyperkeratosis (HP:0033707)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
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: KRT16
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
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: KRT16
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: KRT16
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
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: KRT16
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Natal tooth (HP:0000695)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Ear pain (HP:0030766)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
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: KRT16
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Gene: KRT16
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
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: KRT16
Phenotype: Alopecia (HP:0001596)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
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: KRT16
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Hyperplastic callus formation (HP:0030268)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Gene: KRT16
Phenotype: Paronychia (HP:0001818)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT16
Phenotype: Lower limb pain (HP:0012514)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Eruptive vellus hair cyst (HP:0025248)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Cutaneous cyst (HP:0025245)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: STEATOCYSTOMA MULTIPLEX (OMIM:184500)
Gene: KRT17
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Steatocystoma multiplex (HP:0012035)
Associated disease: Sebocystomatosis; Steatocystoma multiplex (ORPHA:841)
Gene: KRT17
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STEATOCYSTOMA MULTIPLEX (OMIM:184500)
Gene: KRT17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Sebocystomatosis; Steatocystoma multiplex (ORPHA:841)
Gene: KRT17
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Folliculitis (HP:0025084)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Dry hair (HP:0011359)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Natal tooth (HP:0000695)
Associated disease: STEATOCYSTOMA MULTIPLEX (OMIM:184500)
Gene: KRT17
Phenotype: Natal tooth (HP:0000695)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Natal tooth (HP:0000695)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Sebocystomatosis; Steatocystoma multiplex (ORPHA:841)
Gene: KRT17
Phenotype: Ear pain (HP:0030766)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Alopecia (HP:0001596)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PACHYONYCHIA CONGENITA 2 (OMIM:167210)
Gene: KRT17
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Hyperplastic callus formation (HP:0030268)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Paronychia (HP:0001818)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT17
Phenotype: Lower limb pain (HP:0012514)
Associated disease: PC; Pachyonychia congenita (ORPHA:2309)
Gene: KRT18
Phenotype: Lethargy (HP:0001254)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Increased level of propylene glycol in blood (HP:0410069)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Esophageal varix (HP:0002040)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Fulminant hepatitis (HP:0004787)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Late onset (HP:0003584)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Fever (HP:0001945)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Hypertension (HP:0000822)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Jaundice (HP:0000952)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT18
Phenotype: Ascites (HP:0001541)
Associated disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Gene: KRT81
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Fine hair (HP:0002213)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Brittle hair (HP:0002299)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Sparse hair (HP:0008070)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Cataract (HP:0000518)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT81
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Joint stiffness (HP:0001387)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Infantile onset (HP:0003593)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Gene: KRT83
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Fine hair (HP:0002213)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: KRT83
Phenotype: Brittle hair (HP:0002299)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)