TaoMedAI/RareMedData huggingface dataset:
Gene: LORICRIN
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Knuckle pad (HP:0032541)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Digital constriction ring (HP:0010491)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Parakeratosis (HP:0001036)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Parakeratosis (HP:0001036)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Skin plaque (HP:0200035)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: LORICRIN
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: LORICRIN
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: LORICRIN
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Gene: LORICRIN
Phenotype: Alopecia (HP:0001596)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Scaling skin on fingertip (HP:0025525)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LORICRIN
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Keratoderma hereditarium mutilans with ichthyosis; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome (ORPHA:79395)
Gene: LOX
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Middle age onset (HP:0003596)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Late onset (HP:0003584)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Dural ectasia (HP:0100775)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Striae distensae (HP:0001065)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)