TaoMedAI/RareMedData huggingface dataset:
Gene: COL9A1
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Flat distal femoral epiphysis (HP:0006398)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Irregular capital femoral epiphysis (HP:0005041)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Schmorl's node (HP:0030041)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Flat face (HP:0012368)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Flat face (HP:0012368)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Hyperplasia of midface (HP:0012371)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: High myopia (HP:0011003)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Degenerative vitreoretinopathy (HP:0007964)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Astigmatism (HP:0000483)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Pes planus (HP:0001763)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Cataract (HP:0000518)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Myopia (HP:0000545)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Foot pain (HP:0025238)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Ulnar deviated club hands (HP:0006055)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Radially deviated wrists (HP:0006190)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Abnormality of radial epiphyses (HP:0003999)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Abnormality of the epiphyses of the elbow (HP:0003946)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)