TaoMedAI/RareMedData huggingface dataset:
Gene: TNPO2
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: EFEMP2
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Spina bifida (HP:0002414)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Stroke (HP:0001297)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Long fingers (HP:0100807)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Intussusception (HP:0002576)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Death in childhood (HP:0003819)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Neonatal death (HP:0003811)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Emphysema (HP:0002097)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: EFEMP2
Phenotype: Hernia (HP:0100790)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: EFEMP2
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP2
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Gene: EFEMP2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP2
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP2
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: EFEMP2
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)