TaoMedAI/RareMedData huggingface dataset:
Gene: FBN1
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: FBN1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
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: FBN1
Phenotype: Broad skull (HP:0002682)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
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: FBN1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
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: FBN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Narrow palate (HP:0000189)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Asthma (HP:0002099)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Emphysema (HP:0002097)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Talipes calcaneovarus (HP:0008124)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Fifth metacarpal with ulnar notch (HP:0005900)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Fifth metacarpal with ulnar notch (HP:0005900)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
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: FBN1
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: FBN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
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: FBN1
Phenotype: Apnea (HP:0002104)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
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: FBN1
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Long toe (HP:0010511)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Middle age onset (HP:0003596)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Adult onset (HP:0003581)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
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: FBN1
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
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: FBN1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
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: FBN1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)