TaoMedAI/RareMedData huggingface dataset:
Gene: CBS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Dystonia (HP:0001332)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Malar rash (HP:0025300)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Cerebral venous sinus thrombosis (HP:0033724)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Flushing (HP:0031284)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Anorexia (HP:0002039)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Homocystinuria (HP:0002156)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Reduced cystathionine beta-synthase activity in cultured fibroblasts (HP:6000357)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Hernia (HP:0100790)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Brittle hair (HP:0002299)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Urticaria (HP:0001025)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Amblyopia (HP:0000646)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Thromboembolism (HP:0001907)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Dental crowding (HP:0000678)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Dental crowding (HP:0000678)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)