TaoMedAI/RareMedData huggingface dataset:
Gene: TGFBR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Arterial dissection (HP:0005294)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Strabismus (HP:0000486)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: TGFBR1
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)
Gene: TGFBR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
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: TGFBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Ptosis (HP:0000508)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Exotropia (HP:0000577)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Myopia (HP:0000545)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
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: TGFBR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
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: TGFBR2
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
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: TGFBR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Tall stature (HP:0000098)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
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: TGFBR2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)