TaoMedAI/RareMedData huggingface dataset:
Gene: SMAD2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Asthma (HP:0002099)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Migraine (HP:0002076)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Middle age onset (HP:0003596)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Late onset (HP:0003584)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Adult onset (HP:0003581)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Uterine rupture (HP:0100718)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Striae distensae (HP:0001065)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Striae distensae (HP:0001065)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: SMAD2
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Broad uvula (HP:0010809)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Intervertebral disk degeneration (HP:0008419)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
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: SMAD2
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
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: SMAD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
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: SMAD2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
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: SMAD2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Isomerism (HP:0031853)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Short stature (HP:0004322)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Vertebral artery aneurysm (HP:0034179)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
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: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SMAD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Young adult onset (HP:0011462)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
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: SMAD2
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Gene: SMAD2
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SMAD2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Gene: SMAD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SMAD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMAD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMAD2
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SMAD2
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SMAD2
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: SMAD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)