TaoMedAI/RareMedData huggingface dataset:
Gene: B3GALT6
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Sclerocornea (HP:0000647)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Long upper lip (HP:0011341)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Long upper lip (HP:0011341)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Microdontia (HP:0000691)
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: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Carious teeth (HP:0000670)
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 thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Decreased body weight (HP:0004325)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Anterior atlanto-occipital dislocation (HP:0005678)
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: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Metaphyseal widening (HP:0003016)
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: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Pectus carinatum (HP:0000768)
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: Thoracic aortic aneurysm (HP:0012727)
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: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Delayed speech and language development (HP:0000750)
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: Dentinogenesis imperfecta (HP:0000703)
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: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Slender long bone (HP:0003100)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Short nose (HP:0003196)
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: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Platyspondyly (HP:0000926)
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: Platyspondyly (HP:0000926)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Cupped ribs (HP:0000887)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Beaking of vertebral bodies (HP:0004568)
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: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Gastrojejunal tube feeding in infancy (HP:0030884)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GALT6
Phenotype: Joint contracture (HP:0034392)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Bruising susceptibility (HP:0000978)
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 skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hyperextensible skin (HP:0000974)
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: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Cutis laxa (HP:0000973)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Cutis laxa (HP:0000973)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Thin skin (HP:0000963)
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: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Osteoporosis (HP:0000939)
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: Osteopenia (HP:0000938)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Osteopenia (HP:0000938)
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: Osteopenia (HP:0000938)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hypoplastic ilia (HP:0000946)
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: Hypoplastic ilia (HP:0000946)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Sparse hair (HP:0008070)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GALT6
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GALT6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GALT6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Multiple joint contractures (HP:0002828)
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: Hyperplasia of the femoral trochanters (HP:0002822)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 (OMIM:615349)
Gene: B3GALT6
Phenotype: Hyperplasia of the femoral trochanters (HP:0002822)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES (OMIM:271640)
Gene: B3GALT6
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GALT6
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GALT6
Phenotype: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: AL-GAZALI SYNDROME (OMIM:609465)
Gene: B3GALT6
Phenotype: Hydrocephalus (HP:0000238)
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: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)