TaoMedAI/RareMedData huggingface dataset:
Gene: FBN1
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Hypertension (HP:0000822)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Hypertension (HP:0000822)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
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: FBN1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Joint contracture (HP:0034392)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Bruising susceptibility (HP:0000978)
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: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Valvular pulmonary stenosis (HP:0034350)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Cutis marmorata (HP:0000965)
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: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Pes valgus (HP:0008081)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Short finger (HP:0009381)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Retrognathia (HP:0000278)
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: Full cheeks (HP:0000293)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Abdominal aortic aneurysm (HP:0005112)
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 recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Exertional dyspnea (HP:0002875)
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: Oligohydramnios (HP:0001562)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Stiff skin (HP:0030053)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Thickened helices (HP:0000391)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Abnormal left ventricular function (HP:0005162)
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: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: High myopia (HP:0011003)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: High myopia (HP:0011003)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: High myopia (HP:0011003)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: High myopia (HP:0011003)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Gene: FBN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Broad forehead (HP:0000337)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FBN1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: High forehead (HP:0000348)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
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 valve stenosis (HP:0001650)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: STIFF SKIN SYNDROME (OMIM:184900)
Gene: FBN1
Phenotype: Bicuspid aortic valve (HP:0001647)
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: Hypertelorism (HP:0000316)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)