TaoMedAI/RareMedData huggingface dataset:
Gene: B3GALT6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: High palate (HP:0000218)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Hip subluxation (HP:0030043)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Flat face (HP:0012368)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Flat face (HP:0012368)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Basilar invagination (HP:0012366)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Low-set ears (HP:0000369)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Long philtrum (HP:0000343)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Micrognathia (HP:0000347)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Micrognathia (HP:0000347)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Micrognathia (HP:0000347)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Radial bowing (HP:0002986)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Oval face (HP:0000300)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Microcornea (HP:0000482)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Torticollis (HP:0000473)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Short nail (HP:0001799)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Proptosis (HP:0000520)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Proptosis (HP:0000520)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Proptosis (HP:0000520)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hallux valgus (HP:0001822)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hallux valgus (HP:0001822)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Glaucoma (HP:0000501)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: B3GALT6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Myopia (HP:0000545)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Myopia (HP:0000545)
Associated disease: B3GALT6-related spondylodysplastic EDS; spEDS-B3GALT6; Beta3GalT6-deficient EDS; Ehlers-Danlos syndrome progeroid type 2; B3GALT6-related spEDS; B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536467)
Gene: GJB4
Phenotype: Tapered finger (HP:0001182)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)