TaoMedAI/RareMedData huggingface dataset:
Gene: COL1A2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Gene: COL1A2
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Gene: COL1A2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A2
Phenotype: Myopia (HP:0000545)
Associated disease: Cardiac-valvular EDS; cvEDS; Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
Gene: COL1A2
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL2A1
Phenotype: Broad palm (HP:0001169)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Irregular iliac crest (HP:0003796)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Lens subluxation (HP:0001132)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Aseptic necrosis of the capital femoral epiphysis; Osteochondrosis of the capital femoral epiphysis; Legg-Calvé-Perthes disease; Perthes disease (ORPHA:2380)
Gene: COL2A1
Phenotype: Morbus Scheuermann (HP:0010891)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Underfolded helix (HP:0008577)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Abnormal antitragus morphology (HP:0009896)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Stiff neck (HP:0025258)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Motor delay (HP:0001270)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short tubular bones of the hand (HP:0001248)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Short tubular bones of the hand (HP:0001248)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Crescent-shaped iliac bone (HP:6000653)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Short iliac bones (HP:0100866)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Impairment of activities of daily living (HP:0031058)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Delayed vertebral ossification (HP:0031096)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Bowed humerus (HP:0003865)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Stillbirth (HP:0003826)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Stillbirth (HP:0003826)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Aseptic necrosis of the capital femoral epiphysis; Osteochondrosis of the capital femoral epiphysis; Legg-Calvé-Perthes disease; Perthes disease (ORPHA:2380)
Gene: COL2A1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Arthritis (HP:0001369)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Lens luxation (HP:0012019)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Neonatal short-trunk short stature (HP:0008857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Narrow femoral neck (HP:0008819)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Corner fracture of metaphysis (HP:0003908)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Corner fracture of metaphysis (HP:0003908)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Membranous vitreous appearance (HP:0031153)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Shortening of all proximal phalanges of the fingers (HP:0006144)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)