TaoMedAI/RareMedData huggingface dataset:
Gene: SERPINF2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Gene: SERPINF2
Phenotype: Intramuscular hematoma (HP:0012233)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Gene: SERPINF2
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: SERPINF2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Gene: PLIN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Stroke (HP:0001297)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Loss of gluteal subcutaneous adipose tissue (HP:0009017)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Infertility (HP:0000789)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Abnormal circulating hormone concentration (HP:0003117)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Insulin-resistant diabetes mellitus at puberty (HP:0000877)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Hypertension (HP:0000822)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD (ORPHA:280356)
Gene: PLIN1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLIN1
Phenotype: Miscarriage (HP:0005268)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 (OMIM:613877)
Gene: PLN
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PLN
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: CARDIOMYOPATHY, DILATED, 1P (OMIM:609909)
Gene: PLN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: PLN
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 (OMIM:613874)
Gene: PLOD1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Impaired vibratory sensation (HP:0002495)
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: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Shoulder subluxation (HP:0003835)
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: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Tall stature (HP:0000098)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Joint dislocation (HP:0001373)
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: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Widened atrophic scar (HP:0031158)
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: Wrist drop (HP:0031189)
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 bilateral hip dislocation (HP:0008780)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Muscle weakness (HP:0001324)
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: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Gene: PLOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PLOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PLOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PLOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PLOD1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PLOD1
Phenotype: Aortic dissection (HP:0002647)
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)