TaoMedAI/RareMedData huggingface dataset:
Gene: FBN1
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: FBN1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Striae distensae (HP:0001065)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Striae distensae (HP:0001065)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
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: FBN1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Thickened skin (HP:0001072)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: GEMSS syndrome; Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORPHA:2084)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Small hand (HP:0200055)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Iridodonesis (HP:0100693)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Iridodonesis (HP:0100693)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Short thumb (HP:0009778)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Broad phalanges of the hand (HP:0009768)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
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: FBN1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
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: FBN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
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: FBN1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
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: FBN1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Short palm (HP:0004279)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Short palm (HP:0004279)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Short palm (HP:0004279)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Short palm (HP:0004279)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Blindness (HP:0000618)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: GEMSS syndrome; Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORPHA:2084)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Short stature (HP:0004322)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Short long bone (HP:0003026)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Short long bone (HP:0003026)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
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: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
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: FBN1
Phenotype: Increased arm span (HP:0012771)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Short fetal femur length (HP:0011428)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Short nose (HP:0003196)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Short nose (HP:0003196)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Short nose (HP:0003196)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Missing ribs (HP:0000921)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Phalangeal cone-shaped epiphyses (HP:0034281)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Broad ribs (HP:0000885)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)