TaoMedAI/RareMedData huggingface dataset:
Gene: FBN2
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN2
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN2
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN2
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN2
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN2
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN2
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN2
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN2
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN2
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Visual field defect (HP:0001123)
Associated disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Gene: EFEMP1
Phenotype: Posterolateral diaphragmatic hernia (HP:0025193)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Gastric diverticulum (HP:0100808)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Rectocele (HP:0100822)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Volvulus (HP:0002580)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Tall stature (HP:0000098)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Retinal arterial occlusion (HP:0025326)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DOYNE HONEYCOMB RETINAL DYSTROPHY (OMIM:126600)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Gene: EFEMP1
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Gene: EFEMP1
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Adult onset (HP:0003581)
Associated disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Gene: EFEMP1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Narrow uvula (HP:0010811)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Macular drusen (HP:0030499)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Retinal vein occlusion (HP:0012636)
Associated disease: Juvenile glaucoma (ORPHA:98977)