TaoMedAI/RareMedData huggingface dataset:
Gene: PLOD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Mitral valve prolapse (HP:0001634)
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: Mitral valve prolapse (HP:0001634)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Impaired tandem gait (HP:0031629)
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: Descending aortic dissection (HP:0012499)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Arterial dissection (HP:0005294)
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: Depressed nasal bridge (HP:0005280)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Microcornea (HP:0000482)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Microcornea (HP:0000482)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Pes planus (HP:0001763)
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: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Talipes equinovarus (HP:0001762)
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: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Ptosis (HP:0000508)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Glaucoma (HP:0000501)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Glaucoma (HP:0000501)
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: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Blue sclerae (HP:0000592)
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: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Abnormal bleeding (HP:0001892)
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: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Retinal detachment (HP:0000541)
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: Hypermetropia (HP:0000540)
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: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Myopia (HP:0000545)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Myopia (HP:0000545)
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: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Cervical C6/C7 vertebrae fusion (HP:6000807)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Wormian bones (HP:0002645)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Wormian bones (HP:0002645)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Pterygium (HP:0001059)
Associated disease: Osteogenesis imperfecta-congenital joint contractures syndrome; Bruck syndrome (ORPHA:2771)
Gene: PLOD2
Phenotype: Pterygium (HP:0001059)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)
Gene: PLOD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLOD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD2
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLOD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD2
Phenotype: Metaphyseal undermodelling (HP:6001098)
Associated disease: BRUCK SYNDROME 2 (OMIM:609220)