TaoMedAI/RareMedData huggingface dataset:
Gene: TGFBR1
Phenotype: Peripheral arterial stenosis (HP:0004950)
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: Self-healing squamous epithelioma (HP:0034720)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Self-healing squamous epithelioma (HP:0034720)
Associated disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)
Gene: TGFBR1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
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 aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Abnormal sternum morphology (HP:0000766)
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: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Paroxysmal dyspnea (HP:0012763)
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: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Dilatation of the ductus arteriosus (HP:0030745)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Hypertension (HP:0000822)
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: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Bruising susceptibility (HP:0000978)
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: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Soft skin (HP:0000977)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Cutis marmorata (HP:0000965)
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: Eczematoid dermatitis (HP:0000964)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Thin skin (HP:0000963)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Retrognathia (HP:0000278)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Retrognathia (HP:0000278)
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: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO (OMIM:132800)
Gene: TGFBR1
Phenotype: Abdominal aortic aneurysm (HP:0005112)
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 recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: High palate (HP:0000218)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Exertional dyspnea (HP:0002875)
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: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR1
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR1
Phenotype: Bicuspid pulmonary valve (HP:0005182)
Associated disease: LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
Gene: TGFBR1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR1
Phenotype: Abnormal left ventricular function (HP:0005162)
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: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)