TaoMedAI/RareMedData huggingface dataset:
Gene: TGFB1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Male infertility (HP:0003251)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Slender build (HP:0001533)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Pes planus (HP:0001763)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Craniofacial osteosclerosis (HP:0005464)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Proptosis (HP:0000520)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
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: TGFB2
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: TGFB2
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
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: TGFB2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Tall stature (HP:0000098)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Tall stature (HP:0000098)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
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: TGFB2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
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: TGFB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
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: TGFB2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: TGFB2
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: TGFB2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: TGFB2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: TGFB2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
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: TGFB2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB2
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: TGFB2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Gene: TGFB2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: TGFB2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)