TaoMedAI/RareMedData huggingface dataset:
Gene: COL1A1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Thin ribs (HP:0000883)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Thin ribs (HP:0000883)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Severe generalized osteoporosis (HP:0005897)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Thin skin (HP:0000963)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Thin skin (HP:0000963)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Thin skin (HP:0000963)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: COL1A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Fibrosarcoma (HP:0100244)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Periosteal thickening of long tubular bones (HP:0006465)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Periosteal thickening of long tubular bones (HP:0006465)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Cervical insufficiency (HP:0030009)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Fatigue (HP:0012378)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Congenital knee dislocation (HP:0005191)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Otosclerosis (HP:0000362)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Otosclerosis (HP:0000362)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Triangular face (HP:0000325)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Subperiosteal bone formation (HP:0031485)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Breech presentation (HP:0001623)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Premature birth (HP:0001622)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Premature birth (HP:0001622)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Arterial dissection (HP:0005294)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Pes planus (HP:0001763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Pain (HP:0012531)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)