TaoMedAI/RareMedData huggingface dataset:
Gene: COL9A2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Small epiphyses (HP:0010585)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Abnormality of the epiphyses of the feet (HP:0010631)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Mild short stature (HP:0003502)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Tibial torsion (HP:0100694)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Short palm (HP:0004279)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Short stature (HP:0004322)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Abnormal patella morphology (HP:0003045)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Fragmentation of the metacarpal epiphyses (HP:0009189)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Reduced arm span (HP:0012770)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Flattened knee epiphyses (HP:0005715)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Myopathy (HP:0003198)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Knee pain (HP:0030839)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Knee pain (HP:0030839)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Fatigue (HP:0012378)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Flat face (HP:0012368)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: High myopia (HP:0011003)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Short chin (HP:0000331)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Genu varum (HP:0002970)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Gene: COL9A2
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Cataract (HP:0000518)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Gene: COL9A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A2
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A2
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A2
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)