TaoMedAI/RareMedData huggingface dataset:
Gene: TGFB2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Ptosis (HP:0000508)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Chronic pain (HP:0012532)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Myopia (HP:0000545)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Tall stature (HP:0000098)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Tall stature (HP:0000098)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (OMIM:107970)
Gene: TGFB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Cleft palate (HP:0000175)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFB3
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB3
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB3
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Gene: TGFB3
Phenotype: Asthma (HP:0002099)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB3
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB3
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB3
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB3
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)