TaoMedAI/RareMedData huggingface dataset:
Gene: COL1A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Long fingers (HP:0100807)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Seizure (HP:0001250)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Absent phalangeal crease (HP:0006109)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Joint dislocation (HP:0001373)
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 dysplasia (HP:0001385)
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: Joint stiffness (HP:0001387)
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: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Joint hypermobility (HP:0001382)
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: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Inguinal hernia (HP:0000023)
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: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Platybasia (HP:0002691)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Coxa valga (HP:0002673)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPOROSIS (OMIM:166710)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Popcorn calcification (HP:6000871)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Popcorn calcification (HP:6000871)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Femoral bowing present at birth, straightening with time (HP:0005005)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Tendon thickening (HP:0032523)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Biconcave flattened vertebrae (HP:0003321)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Femoral hernia (HP:0100541)
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: Tendon rupture (HP:0100550)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Muscle flaccidity (HP:0010547)
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: Echolalia (HP:0010529)
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: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Severe short stature (HP:0003510)
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: Poor wound healing (HP:0001058)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Aphasia (HP:0002381)
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: Arterial rupture (HP:0025019)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Abnormality of subcutaneous fat tissue (HP:0001001)
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: Limb undergrowth (HP:0009826)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Gene: COL1A2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Joint subluxation (HP:0032153)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Scarring (HP:0100699)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Mutism (HP:0002300)
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: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)