TaoMedAI/RareMedData huggingface dataset:
Gene: AEBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Widened atrophic scar (HP:0031158)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Widened atrophic scar (HP:0031158)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Prominent veins on trunk (HP:0007457)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Varicose veins (HP:0002619)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Phalangeal dislocation (HP:0006243)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Low back pain (HP:0003419)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Keloids (HP:0010562)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Empty sella turcica (HP:6000483)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Cellulitis (HP:0100658)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Long uvula (HP:0010810)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Long uvula (HP:0010810)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Periodontitis (HP:0000704)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Recurrent thrombophlebitis (HP:0004419)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)