TaoMedAI/RareMedData huggingface dataset:
Gene: GJA1
Phenotype: Arrhythmia (HP:0011675)
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: Arrhythmia (HP:0011675)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Epicanthus (HP:0000286)
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: Epicanthus (HP:0000286)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Abnormal nail morphology (HP:0001597)
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 nail morphology (HP:0001597)
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: Abnormal nail morphology (HP:0001597)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Alopecia (HP:0001596)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Alopecia (HP:0001596)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Clinodactyly (HP:0030084)
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: Clinodactyly (HP:0030084)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Club-shaped distal femur (HP:0006384)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: High palate (HP:0000218)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Umbilical hernia (HP:0001537)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormal pinna morphology (HP:0000377)
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 pinna morphology (HP:0000377)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Abnormality of the nose (HP:0000366)
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: Low-set ears (HP:0000369)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: High forehead (HP:0000348)
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: Micrognathia (HP:0000347)
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: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Ventricular septal defect (HP:0001629)
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: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Mandibular prognathia (HP:0000303)
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: Mandibular prognathia (HP:0000303)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Conductive hearing impairment (HP:0000405)
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: Conductive hearing impairment (HP:0000405)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Strabismus (HP:0000486)
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: Microcornea (HP:0000482)
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: Microcornea (HP:0000482)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Microcornea (HP:0000482)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Abnormality of the eye (HP:0000478)
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: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Deeply set eye (HP:0000490)
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: Deeply set eye (HP:0000490)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Anteverted nares (HP:0000463)
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: Anteverted nares (HP:0000463)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Narrow nose (HP:0000460)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Narrow nose (HP:0000460)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Toe syndactyly (HP:0001770)
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: Toe syndactyly (HP:0001770)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: Short foot (HP:0001773)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Narrow nasal bridge (HP:0000446)
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 nasal bridge (HP:0000446)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Underdeveloped nasal alae (HP:0000430)
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: Underdeveloped nasal alae (HP:0000430)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Facial hyperostosis (HP:0005465)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Cataract (HP:0000518)
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: Cataract (HP:0000518)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Cataract (HP:0000518)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Cataract (HP:0000518)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormality iris morphology (HP:0000525)
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: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Weight loss (HP:0001824)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Leukonychia (HP:0001820)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Leukonychia (HP:0001820)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Visual impairment (HP:0000505)
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: Abnormality of vision (HP:0000504)
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: Glaucoma (HP:0000501)
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: Glaucoma (HP:0000501)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Short toe (HP:0001831)
Associated disease: Syndactyly type 3; Syndactyly of fingers 4 and 5; SD3 (ORPHA:93404)
Gene: GJA1
Phenotype: Fragile nails (HP:0001808)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)