TaoMedAI/RareMedData huggingface dataset:
Gene: GJB2
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
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: GJB2
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: GJB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (OMIM:601544)
Gene: GJB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (OMIM:148350)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Osteolysis (HP:0002797)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Knuckle pad (HP:0032541)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Knuckle pad (HP:0032541)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
Phenotype: Knuckle pad (HP:0032541)
Associated disease: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome (ORPHA:2698)
Gene: GJB2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
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: GJB2
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
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: GJB2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Papule (HP:0200034)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome (ORPHA:2698)
Gene: GJB2
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Blindness (HP:0000618)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Photophobia (HP:0000613)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Microdontia (HP:0000691)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
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: GJB2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
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: GJB2
Phenotype: Dilatated internal auditory canal (HP:0004458)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
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: GJB2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome (ORPHA:2698)
Gene: GJB2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
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: GJB2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome (ORPHA:2698)
Gene: GJB2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (OMIM:148350)
Gene: GJB2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome (ORPHA:2698)
Gene: GJB2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar keratoderma-deafness syndrome; PPK-deafness syndrome; Palmoplantar hyperkeratosis-deafness syndrome; Palmoplantar keratoderma-hearing loss syndrome; Palmoplantar hyperkeratosis-hearing loss syndrome (ORPHA:2202)
Gene: GJB2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
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: GJB2
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: GJB2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Palmoplantar keratoderma-deafness syndrome; PPK-deafness syndrome; Palmoplantar hyperkeratosis-deafness syndrome; Palmoplantar keratoderma-hearing loss syndrome; Palmoplantar hyperkeratosis-hearing loss syndrome (ORPHA:2202)
Gene: GJB2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PPK mutilans and hearing loss; PPK mutilans and deafness; Mutilating keratoderma plus hearing loss; Keratoderma hereditarium mutilans; Vohwinkel syndrome; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness (ORPHA:494)
Gene: GJB2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)