TaoMedAI/RareMedData huggingface dataset:
Gene: PLOD1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Abnormal venous morphology (HP:0002624)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts (HP:6000826)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine (HP:6000330)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Joint subluxation (HP:0032153)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Progressive congenital scoliosis (HP:0008458)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Blindness (HP:0000618)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio (HP:0034006)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Ocular-scoliotic EDS; kEDS-PLOD1; Lysyl hydroxylase-deficient EDS; EDS VIA (ORPHA:1900)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)