TaoMedAI/RareMedData huggingface dataset:
Gene: LTBP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Visual loss (HP:0000572)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Visual loss (HP:0000572)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Myopia (HP:0000545)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Myopia (HP:0000545)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP3
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Asthma (HP:0002099)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Dyspnea (HP:0002094)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Pneumonia (HP:0002090)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Fifth metacarpal with ulnar notch (HP:0005900)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Severe short stature (HP:0003510)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Thickened skin (HP:0001072)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: LTBP3
Phenotype: Thickened skin (HP:0001072)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Gene: LTBP3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP3
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LTBP3
Phenotype: Small hand (HP:0200055)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: LTBP3
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LTBP3
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LTBP3
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LTBP3
Phenotype: Herniation of intervertebral nuclei (HP:0008441)
Associated disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Gene: LTBP3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP3
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LTBP3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)