TaoMedAI/RareMedData huggingface dataset:
Gene: TGFBR2
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
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: Generalized arterial tortuosity (HP:0004955)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Ascending aortic dissection (HP:0004933)
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: Juvenile onset (HP:0003621)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
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: TGFBR2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
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: TGFBR2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Cough (HP:0012735)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
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: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma; Squamous cell carcinoma of the esophagus; ESCC (ORPHA:99977)
Gene: TGFBR2
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: ESOPHAGEAL CANCER (OMIM:133239)
Gene: TGFBR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
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: TGFBR2
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Dilatation of the ductus arteriosus (HP:0030745)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
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: TGFBR2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFBR2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
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: TGFBR2
Phenotype: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Soft skin (HP:0000977)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
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: TGFBR2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Thin skin (HP:0000963)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Retrognathia (HP:0000278)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
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: TGFBR2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFBR2
Phenotype: Arterial tortuosity (HP:0005116)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
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: TGFBR2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Gene: TGFBR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFBR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFBR2
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFBR2
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFBR2
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFBR2
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: TGFBR2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: TGFBR2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFBR2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)