TaoMedAI/RareMedData huggingface dataset:
Gene: GJB2
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: GJB2
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: GJB2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Ichthyosis (HP:0008064)
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: Ichthyosis (HP:0008064)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
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: GJB2
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: GJB2
Phenotype: Abnormal nail morphology (HP:0001597)
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: Alopecia (HP:0001596)
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: 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: GJB2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
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: GJB2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
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: GJB2
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: GJB2
Phenotype: Stapes ankylosis (HP:0000381)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
Phenotype: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: VOHWINKEL SYNDROME (OMIM:124500)
Gene: GJB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (OMIM:148350)
Gene: GJB2
Phenotype: Posterior blepharitis (HP:0025610)
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: Elbow flexion contracture (HP:0002987)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Angular cheilitis (HP:0030318)
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: Progeroid facial appearance (HP:0005328)
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: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (OMIM:601544)
Gene: GJB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Conductive hearing impairment (HP:0000405)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Keratitis (HP:0000491)
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: Keratitis (HP:0000491)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB2
Phenotype: Mixed hearing impairment (HP:0000410)
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: Mixed hearing impairment (HP:0000410)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB2
Phenotype: Pes cavus (HP:0001761)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Pes cavus (HP:0001761)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Recurrent bacterial skin infections (HP:0005406)
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: Recurrent bacterial skin infections (HP:0005406)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Recurrent candida infections (HP:0005401)
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: Leukonychia (HP:0001820)
Associated disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Gene: GJB2
Phenotype: Leukonychia (HP:0001820)
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: Conjunctivitis (HP:0000509)
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: Onychogryphosis (HP:0001805)
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: Absent eyelashes (HP:0000561)
Associated disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Gene: GJB2
Phenotype: Prominent forehead (HP:0011220)
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 scarring (HP:0000559)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Gene: GJB2
Phenotype: Visual loss (HP:0000572)
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: GJB3
Phenotype: Tapered finger (HP:0001182)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB3
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)
Gene: GJB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Erythroderma (HP:0001019)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Gene: GJB3
Phenotype: Short stature (HP:0004322)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Macule (HP:0012733)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Skin rash (HP:0000988)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Dry skin (HP:0000958)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Alopecia (HP:0001596)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)
Gene: GJB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB3
Phenotype: Protruding ear (HP:0000411)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Cataract (HP:0000518)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Weight loss (HP:0001824)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GK
Phenotype: Lethargy (HP:0001254)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Coma (HP:0001259)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Nausea (HP:0002018)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Increased urinary glycerol (HP:0040301)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Hyperglycerolemia (HP:0040302)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Myalgia (HP:0003326)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Vomiting (HP:0002013)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Adrenocortical hypoplasia (HP:0008182)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Adult onset (HP:0003581)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Reduced glycerol kinase activity in cultured fibroblasts (HP:4000211)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Myopathy (HP:0003198)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Osteoporosis (HP:0000939)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Small for gestational age (HP:0001518)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Gene: GK
Phenotype: Strabismus (HP:0000486)
Associated disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)