TaoMedAI/RareMedData huggingface dataset:
Gene: COL5A1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Headache (HP:0002315)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Joint subluxation (HP:0032153)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Limb pain (HP:0009763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Tortuous cerebral arteries (HP:0004938)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Soft skin (HP:0000977)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Premature birth following premature rupture of fetal membranes (HP:0005100)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Vertebral artery tortuosity (HP:0033981)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Celiac artery dissection (HP:0033982)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: High palate (HP:0000218)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Fatigue (HP:0012378)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Lop ear (HP:0000394)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Bowel diverticulosis (HP:0005222)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Premature birth (HP:0001622)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Carotid artery tortuosity (HP:0005302)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Arterial fibromuscular dysplasia (HP:0005313)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Arterial dissection (HP:0005294)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Narrow nose (HP:0000460)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Pes planus (HP:0001763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Pes planus (HP:0001763)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Myopia (HP:0000545)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A2
Phenotype: Pulp calcification (HP:0003771)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Motor delay (HP:0001270)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Joint swelling (HP:0001386)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Phalangeal dislocation (HP:0006243)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Nausea (HP:0002018)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Vomiting (HP:0002013)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Incisional hernia (HP:0004872)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hernia (HP:0100790)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Striae distensae (HP:0001065)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Fragile skin (HP:0001030)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Headache (HP:0002315)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Limb pain (HP:0009763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Recurrent joint dislocation (HP:0031869)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Ecchymosis (HP:0031364)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Fatigue (HP:0012378)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Premature birth (HP:0001622)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Arterial dissection (HP:0005294)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL5A2
Phenotype: Pes planus (HP:0001763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 (OMIM:130010)
Gene: COL6A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)