TaoMedAI/RareMedData huggingface dataset:
Gene: SEPTIN9
Phenotype: Round face (HP:0000311)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: SEPTIN9
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Deeply set eye (HP:0000490)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Ptosis (HP:0000508)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: AMYOTROPHY, HEREDITARY NEURALGIC (OMIM:162100)
Gene: SEPTIN9
Phenotype: Upper limb pain (HP:0012513)
Associated disease: Mononeuritis multiplex with brachial predilection; Neuralgic amyotrophy; Acute brachial plexus neuritis; Brachial plexus neuritis; Neuralgic shoulder amyotrophy; Immune brachial plexus neuropathy (ORPHA:2901)
Gene: GJB6
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Adult onset sensorineural hearing impairment (HP:0008615)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 3B (OMIM:612643)
Gene: GJB6
Phenotype: Sepsis (HP:0100806)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB6
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Arthritis (HP:0001369)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Coxa valga (HP:0002673)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)
Gene: GJB6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 3B (OMIM:612643)
Gene: GJB6
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Lip fissure (HP:0031250)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Brittle scalp hair (HP:0004779)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Fine hair (HP:0002213)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Fine hair (HP:0002213)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Brittle hair (HP:0002299)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Slow-growing nails (HP:0008383)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Skin nodule (HP:0200036)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Skin plaque (HP:0200035)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Folliculitis (HP:0025084)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Thickened skin (HP:0001072)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Photophobia (HP:0000613)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Photophobia (HP:0000613)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Short stature (HP:0004322)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Trichilemmoma (HP:0012844)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Generalized hypotrichosis (HP:0004528)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Knee pain (HP:0030839)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Acne inversa (HP:0040154)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Scaling skin (HP:0040189)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Aplastic/hypoplastic lacrimal glands (HP:0008038)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Alopecia (HP:0001596)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Alopecia (HP:0001596)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Gingivitis (HP:0000230)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)