TaoMedAI/RareMedData huggingface dataset:
Gene: PLOD1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Decreased muscle mass (HP:0003199)
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: Platyspondyly (HP:0000926)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Thin ribs (HP:0000883)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Abnormality of the brachial nerve plexus (HP:0045052)
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: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Bruising susceptibility (HP:0000978)
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: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Hyperextensible skin (HP:0000974)
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: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Atypical scarring of skin (HP:0000987)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Thin skin (HP:0000963)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Osteoporosis (HP:0000939)
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: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Osteopenia (HP:0000938)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Osteopenia (HP:0000938)
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: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Muscle fiber atrophy (HP:0100295)
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: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Retrognathia (HP:0000278)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Narrow face (HP:0000275)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Long face (HP:0000276)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Long face (HP:0000276)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Mitral annular calcification (HP:0005136)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Hip dislocation (HP:0002827)
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: Knee flexion contracture (HP:0006380)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Trigonocephaly (HP:0000243)
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: Hydrocephalus (HP:0000238)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Scleral rupture (HP:0025513)
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: High palate (HP:0000218)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: High palate (HP:0000218)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: High palate (HP:0000218)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: High palate (HP:0000218)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Umbilical hernia (HP:0001537)
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: Umbilical hernia (HP:0001537)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Hip subluxation (HP:0030043)
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: Disproportionate tall stature (HP:0001519)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Disproportionate tall stature (HP:0001519)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Increased axial length of the globe (HP:0007800)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
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 (HP:0012385)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Abnormal pinna morphology (HP:0000377)
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: Abnormal pinna morphology (HP:0000377)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Recurrent pneumonia (HP:0006532)
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: Recurrent intrapulmonary hemorrhage (HP:0006535)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Repeated pneumothoraces (HP:0006522)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Thoracic scoliosis (HP:0002943)
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: Tricuspid regurgitation (HP:0005180)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Patellar dislocation (HP:0002999)
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: Patellar dislocation (HP:0002999)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Elbow flexion contracture (HP:0002987)
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 regurgitation (HP:0001653)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Congestive heart failure (HP:0001635)
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: Atrial septal defect (HP:0001631)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)