TaoMedAI/RareMedData huggingface dataset:
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Delayed distal femoral epiphyseal ossification (HP:6000866)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Delayed tibial epiphyseal ossification (HP:6000867)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Abnormality of the dentition (HP:0000164)
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: Abnormality of the dentition (HP:0000164)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Rhizomelic leg shortening (HP:0012106)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Gene: COL2A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Gene: COL2A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Delayed skeletal maturation (HP:0002750)
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: Gastroesophageal reflux (HP:0002020)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Poor suck (HP:0002033)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: C1-C2 subluxation (HP:0003320)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Absent vertebral body mineralization (HP:0004605)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Absent vertebral body mineralization (HP:0004605)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Hyperconvex vertebral body endplates (HP:0004603)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Delayed calcaneal ossification (HP:0008142)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Atlantoaxial instability (HP:0003467)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Back pain (HP:0003418)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Short distal phalanx of the 2nd finger (HP:0009566)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Metaphyseal dappling (HP:0011860)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Abnormality of the epiphysis of the femoral head (HP:0010574)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Abnormality of the epiphysis of the femoral head (HP:0010574)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: Kniest dysplasia (ORPHA:485)