TaoMedAI/RareMedData huggingface dataset:
Gene: COL2A1
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Cartilage destruction (HP:0100773)
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: Vertebral hypoplasia (HP:0008417)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Exostoses (HP:0100777)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Exostoses (HP:0100777)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Abnormal vertebral epiphysis morphology (HP:0100734)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Severe limb shortening (HP:0200083)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Cervical spine instability (HP:0010646)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Cervical myelopathy (HP:0002318)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Aplasia/hypoplasia of the extremities (HP:0009815)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Skin erosion (HP:0200041)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Cervical instability (HP:0008462)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Cervical instability (HP:0008462)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Wafer-thin platyspondyly (HP:0008452)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short thumb (HP:0009778)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Limb pain (HP:0009763)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Short palm (HP:0004279)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Blindness (HP:0000618)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short distal phalanx of the 3rd finger (HP:0004180)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Broad hallux (HP:0010055)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Broad long bones (HP:0005622)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL2A1
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Asteroid hyalosis (HP:0030672)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Arthropathy (HP:0003040)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Arthropathy (HP:0003040)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Short long bone (HP:0003026)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Narrow chest (HP:0000774)
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 ribs (HP:0000773)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Short ribs (HP:0000773)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Short ribs (HP:0000773)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: LEGG-CALVE-PERTHES DISEASE (OMIM:150600)
Gene: COL2A1
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Short nose (HP:0003196)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)