TaoMedAI/RareMedData huggingface dataset:
Gene: GJA1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Keratosis pilaris (HP:0032152)
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: Broad columella (HP:0010761)
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: Vertebral hyperostosis (HP:0008442)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Patchy sclerosis of finger phalanx (HP:0009772)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Nystagmus (HP:0000639)
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: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Optic atrophy (HP:0000648)
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: Optic atrophy (HP:0000648)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Photophobia (HP:0000613)
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: Hypoglycemia (HP:0001943)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hypotelorism (HP:0000601)
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: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Dry hair (HP:0011359)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
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: Delayed eruption of teeth (HP:0000684)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Mild global developmental delay (HP:0011342)
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: Mild global developmental delay (HP:0011342)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Taurodontia (HP:0000679)
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: Taurodontia (HP:0000679)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Dental crowding (HP:0000678)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Microdontia (HP:0000691)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Sparse eyelashes (HP:0000653)
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: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Carious teeth (HP:0000670)
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: Carious teeth (HP:0000670)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Short stature (HP:0004322)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Short stature (HP:0004322)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Broad long bones (HP:0005622)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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 cardiovascular system morphology (HP:0030680)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Madelung deformity (HP:0003067)
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: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Macule (HP:0012733)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Nuclear cataract (HP:0100018)
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: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Absent middle phalanx of 5th finger (HP:0009162)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: Flexion contracture of finger (HP:0012785)
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: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Short hallux (HP:0010109)
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 chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Cranial hyperostosis (HP:0004437)
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: 2-4 toe cutaneous syndactyly (HP:0005768)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
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: Bony paranasal bossing (HP:0004407)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Short nose (HP:0003196)
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: Short nose (HP:0003196)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Long nose (HP:0003189)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Abnormal clavicle morphology (HP:0000889)
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: Non-midline cleft of the upper lip (HP:0100335)
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: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Mitral atresia (HP:0011560)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: GJA1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: SYNDACTYLY, TYPE III (OMIM:186100)
Gene: GJA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Generalized hypotrichosis (HP:0004528)
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: Sparse eyebrow (HP:0045075)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Sparse eyebrow (HP:0045075)
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: Metaphyseal dysplasia (HP:0100255)
Associated disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Gene: GJA1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Skin rash (HP:0000988)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Palmoplantar keratoderma (HP:0000982)
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: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Palmoplantar keratoderma (HP:0000982)
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: Dry skin (HP:0000958)
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: Dry skin (HP:0000958)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Craniometaphyseal dysplasia (ORPHA:1522)
Gene: GJA1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
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 diaphysis morphology (HP:0000940)
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: Orthokeratosis (HP:0040162)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Gene: GJA1
Phenotype: Sparse hair (HP:0008070)
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: Sparse hair (HP:0008070)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Sparse hair (HP:0008070)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Sparse hair (HP:0008070)
Associated disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Gene: GJA1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJA1
Phenotype: Scaling skin (HP:0040189)
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)