TaoMedAI/RareMedData huggingface dataset:
Gene: COL4A4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Myopia (HP:0000545)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Myopia (HP:0000545)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Lenticonus (HP:0001142)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Achalasia (HP:0002571)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Dyspepsia (HP:0410281)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Proteinuria (HP:0000093)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Nephritis (HP:0000123)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Nephropathy (HP:0000112)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Abnormal esophagus morphology (HP:0002031)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Dysphagia (HP:0002015)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Vomiting (HP:0002013)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Dyspnea (HP:0002094)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Abnormality of the female genitalia (HP:0010460)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Chest pain (HP:0100749)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Fibroma (HP:0010614)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Progressive (HP:0003676)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Corneal erosion (HP:0200020)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Precordial pain (HP:0032141)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Reduced epidermal collagen IV alpha 5 chain staining (HP:6001026)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Cough (HP:0012735)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Hematuria (HP:0000790)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Hypertension (HP:0000822)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Glomerular basement membrane lamellation (HP:0030034)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Tracheobronchial leiomyomatosis (HP:0006524)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Keratitis (HP:0000491)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Diffuse leiomyomatosis (HP:0006756)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Diffuse leiomyomatosis (HP:0006756)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Vulvar neoplasm (HP:0030416)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Weight loss (HP:0001824)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A5
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A5
Phenotype: Myopia (HP:0000545)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, X-LINKED 6 (OMIM:300914)
Gene: COL4A6
Phenotype: Achalasia (HP:0002571)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Dyspepsia (HP:0410281)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Proteinuria (HP:0000093)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Nephropathy (HP:0000112)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 6 (OMIM:300914)
Gene: COL4A6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Abnormal esophagus morphology (HP:0002031)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Dysphagia (HP:0002015)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Vomiting (HP:0002013)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Dyspnea (HP:0002094)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Abnormality of the female genitalia (HP:0010460)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, X-LINKED 6 (OMIM:300914)
Gene: COL4A6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Chest pain (HP:0100749)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Fibroma (HP:0010614)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Precordial pain (HP:0032141)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Incomplete partition of the cochlea (HP:0011373)
Associated disease: DEAFNESS, X-LINKED 6 (OMIM:300914)
Gene: COL4A6
Phenotype: Cough (HP:0012735)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Hematuria (HP:0000790)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Tracheobronchial leiomyomatosis (HP:0006524)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Keratitis (HP:0000491)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Diffuse leiomyomatosis (HP:0006756)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Vulvar neoplasm (HP:0030416)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Weight loss (HP:0001824)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL4A6
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked Alport syndrome-diffuse leiomyomatosis; Xq22.3 microdeletion syndrome (ORPHA:1018)
Gene: COL5A1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Pulp calcification (HP:0003771)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Motor delay (HP:0001270)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Dilatation of celiac artery (HP:0100858)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Shoulder subluxation (HP:0003835)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Joint swelling (HP:0001386)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Irregularly spaced teeth (HP:0006316)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Floppy infant (HP:0008947)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Phalangeal dislocation (HP:0006243)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Nausea (HP:0002018)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Vomiting (HP:0002013)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Narrow maxilla (HP:0002010)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Migraine (HP:0002076)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Hyperextensibility of the knee (HP:0010500)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Striae distensae (HP:0001065)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Striae distensae (HP:0001065)
Associated disease: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL (OMIM:619329)
Gene: COL5A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 (OMIM:130000)
Gene: COL5A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL5A1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)