TaoMedAI/RareMedData huggingface dataset:
Gene: FBN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Hypertelorism (HP:0000316)
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: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Round face (HP:0000311)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Round face (HP:0000311)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Round face (HP:0000311)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Heart murmur (HP:0030148)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Aortic regurgitation (HP:0001659)
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: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Triangular face (HP:0000325)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Premature birth (HP:0001622)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Cardiomegaly (HP:0001640)
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: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Descending aortic dissection (HP:0012499)
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: Atrioventricular canal defect (HP:0006695)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Abnormal cardiac ventricle morphology (HP:0001713)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Narrow nose (HP:0000460)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Hypovolemia (HP:0011106)
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: Short foot (HP:0001773)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Short foot (HP:0001773)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Short foot (HP:0001773)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Pes planus (HP:0001763)
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: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Cataract (HP:0000518)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Cataract (HP:0000518)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Cataract (HP:0000518)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Cataract (HP:0000518)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Abnormality iris morphology (HP:0000525)
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: Long eyelashes (HP:0000527)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Ptosis (HP:0000508)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: GEMSS syndrome; Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORPHA:2084)
Gene: FBN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Depressed glabella (HP:0011222)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Visual loss (HP:0000572)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)