TaoMedAI/RareMedData huggingface dataset:
Gene: COL2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Trismus (HP:0000211)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE (OMIM:616583)
Gene: COL2A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Abnormal ilium morphology (HP:0002867)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Schmorl's node (HP:0030041)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Flared femoral metaphysis (HP:0002834)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Growth delay (HP:0001510)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL2A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Small earlobe (HP:0000385)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Groin pain (HP:0031520)
Associated disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 (OMIM:608805)
Gene: COL2A1
Phenotype: Groin pain (HP:0031520)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Flat face (HP:0012368)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE (OMIM:184253)
Gene: COL2A1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: CZECH DYSPLASIA (OMIM:609162)
Gene: COL2A1
Phenotype: Restricted large joint movement (HP:0005193)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Abnormal femoral epiphysis morphology (HP:0006499)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Abnormal circulating osteocalcin level (HP:0031427)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR (OMIM:609508)
Gene: COL2A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: High myopia (HP:0011003)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: High myopia (HP:0011003)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Pugilistic facies (HP:0000339)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Heberden node (HP:0012313)
Associated disease: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OMIM:604864)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Micromelia (HP:0002983)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Micromelia (HP:0002983)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Micromelia (HP:0002983)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Gene: COL2A1
Phenotype: Round face (HP:0000311)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Round face (HP:0000311)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Radial bowing (HP:0002986)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: COL2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL2A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Degenerative vitreoretinopathy (HP:0007964)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Dysspondyloenchondromatosis (ORPHA:85198)
Gene: COL2A1
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA (OMIM:619248)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stickler syndrome type 1 (ORPHA:90653)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS (OMIM:132450)
Gene: COL2A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Spondylometaphyseal dysplasia, Algerian type; Spondylometaphyseal dysplasia with severe genu valgum; Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Achondrogenesis type 2; Achondrogenesis, Langer-Saldino type (ORPHA:93296)
Gene: COL2A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL2A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL2A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: STICKLER SYNDROME, TYPE I (OMIM:108300)
Gene: COL2A1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ACHONDROGENESIS, TYPE II (OMIM:200610)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: Kniest dysplasia (ORPHA:485)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: SEDC; Spranger-Wiedemann disease; Congenital spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (OMIM:183900)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE (OMIM:151210)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: COL2A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Short foot (HP:0001773)
Associated disease: SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
Gene: COL2A1
Phenotype: Short foot (HP:0001773)
Associated disease: Platyspondylic lethal skeletal dysplasia, Torrance type; Platyspondylic dysplasia, Torrance-Luton type; Platyspondylic dysplasia, Torrance type; PLSD-T (ORPHA:85166)
Gene: COL2A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (OMIM:184250)
Gene: COL2A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL2A1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)