TaoMedAI/RareMedData huggingface dataset:
Gene: COL2A1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Retinal hole (HP:0011530)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Thin ribs (HP:0000883)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Short femur (HP:0003097)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Short distal phalanx of the 4th finger (HP:0009290)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Anterior vertebral fusion (HP:0004557)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Metaphyseal enchondromatosis (HP:0005868)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
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: Type E brachydactyly (HP:0005863)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Tympanic membrane hypermobility (HP:6000015)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Knee pain (HP:0030839)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Hip pain (HP:0030838)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Hip pain (HP:0030838)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Hip pain (HP:0030838)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Disc-like vertebral bodies (HP:0004591)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Short thorax (HP:0010306)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Short thorax (HP:0010306)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Edema (HP:0000969)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Edema (HP:0000969)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Internal tibial torsion (HP:0034372)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Aplasia/Hypoplasia of the lens (HP:0008063)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Increased head circumference (HP:0040194)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Delayed patellar ossification (HP:0006454)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Hypoplasia of proximal radius (HP:0006434)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Abnormality of the vertebral endplates (HP:0005106)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Club-shaped proximal femur (HP:0006406)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
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: Arthralgia (HP:0002829)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Absent styloid process of ulna (HP:0005068)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short lower limbs (HP:0006385)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Anisospondyly (HP:0002879)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: High palate (HP:0000218)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)