TaoMedAI/RareMedData huggingface dataset:
Gene: GJA1
Phenotype: Seizure (HP:0001250)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Seizure (HP:0001250)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Ataxia (HP:0001251)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Ataxia (HP:0001251)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Spasticity (HP:0001257)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Spasticity (HP:0001257)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Syndactyly type 3; Syndactyly of fingers 4 and 5; SD3 (ORPHA:93404)
Gene: GJA1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Skin fissure (HP:0031057)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Palmoplantar erythema (HP:0025493)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Digital constriction ring (HP:0010491)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Syndactyly type 3; Syndactyly of fingers 4 and 5; SD3 (ORPHA:93404)
Gene: GJA1
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Sclerodactyly (HP:0011838)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Curly hair (HP:0002212)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Fine hair (HP:0002213)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Fine hair (HP:0002213)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Fine hair (HP:0002213)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Large earlobe (HP:0009748)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Absent hair (HP:0002298)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Brittle hair (HP:0002299)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Brittle hair (HP:0002299)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Paraparesis (HP:0002385)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Facial erythema (HP:0001041)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Small hand (HP:0200055)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Erythema (HP:0010783)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)