TaoMedAI/RareMedData huggingface dataset:
Gene: B3GAT3
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Narrow chest (HP:0000774)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Cutis laxa (HP:0000973)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Osteopenia (HP:0000938)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Small face (HP:0000274)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Flat face (HP:0012368)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Broad forehead (HP:0000337)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Short neck (HP:0000470)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Webbed neck (HP:0000465)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: B3GAT3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Pes planus (HP:0001763)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)