TaoMedAI/RareMedData huggingface dataset:
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Scoliosis (HP:0002650)
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: Spondyloepimetaphyseal dysplasia (HP:0002651)
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: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Neonatal hypotonia (HP:0001319)
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: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Aortic root aneurysm (HP:0002616)
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 root aneurysm (HP:0002616)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Cleft palate (HP:0000175)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Cleft palate (HP:0000175)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Large joint dislocations (HP:0005008)
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: Peripapillary atrophy (HP:0500087)
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: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Phalangeal dislocation (HP:0006243)
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: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Tracheomalacia (HP:0002779)
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: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Recurrent fractures (HP:0002757)
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: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Kyphoscoliosis (HP:0002751)
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: Kyphoscoliosis (HP:0002751)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Ovoid vertebral bodies (HP:0003300)
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: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Midface retrusion (HP:0011800)
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: Pulmonary hypoplasia (HP:0002089)
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: Respiratory distress (HP:0002098)
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: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Respiratory insufficiency (HP:0002093)
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: Respiratory insufficiency (HP:0002093)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Restrictive ventilatory defect (HP:0002091)
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: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Atlantoaxial dislocation (HP:0003414)
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: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Paraplegia (HP:0010550)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Dysplasia of the femoral head (HP:0010575)
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: Dysplasia of the femoral head (HP:0010575)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Infantile onset (HP:0003593)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Renal neoplasm (HP:0009726)
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: Carpal synostosis (HP:0009702)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Atelectasis (HP:0100750)
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: Dermal translucency (HP:0010648)
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: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Large joint hypermobilty (HP:0430047)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Large joint hypermobilty (HP:0430047)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Cervical spine instability (HP:0010646)
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: Cervical spine instability (HP:0010646)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Fragile skin (HP:0001030)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Soft, doughy skin (HP:0001027)
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: Soft, doughy skin (HP:0001027)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
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: Broad distal phalanx of finger (HP:0009836)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Atrophic scars (HP:0001075)
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: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Congenital kyphoscoliosis (HP:0008453)
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 metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
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: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)