TaoMedAI/RareMedData huggingface dataset:
Gene: COL1A2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Short stature (HP:0004322)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Absent ossification of calvaria (HP:0005623)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Broad long bones (HP:0005622)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Bowing of limbs due to multiple fractures (HP:0003023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Bowing of limbs due to multiple fractures (HP:0003023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Severe conductive hearing impairment (HP:0012717)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Slender long bone (HP:0003100)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Basilar impression (HP:0005758)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
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: COL1A2
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Thin ribs (HP:0000883)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Thin ribs (HP:0000883)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Severe generalized osteoporosis (HP:0005897)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
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: COL1A2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Thin skin (HP:0000963)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Thin skin (HP:0000963)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Thin skin (HP:0000963)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
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: COL1A2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: COL1A2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
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: COL1A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
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: COL1A2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
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: COL1A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
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: COL1A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Crumpled long bones (HP:0006367)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: High palate (HP:0000218)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Fatigue (HP:0012378)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Otosclerosis (HP:0000362)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
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: COL1A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
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: COL1A2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Triangular face (HP:0000325)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Breech presentation (HP:0001623)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Premature birth (HP:0001622)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Recurrent shoulder dislocation (HP:0031610)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
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: COL1A2
Phenotype: Strabismus (HP:0000486)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Pes planus (HP:0001763)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)