TaoMedAI/RareMedData huggingface dataset:
Gene: COL8A2
Phenotype: Corneal degeneration (HP:0007705)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 (OMIM:609140)
Gene: COL8A2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Visual loss (HP:0000572)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Esotropia (HP:0000565)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL9A1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Ulnar deviated club hands (HP:0006055)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Radially deviated wrists (HP:0006190)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Abnormality of radial epiphyses (HP:0003999)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Abnormality of the epiphyses of the elbow (HP:0003946)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Abnormality of the epiphyses of the feet (HP:0010631)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Short stature (HP:0004322)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Intervertebral disk calcification (HP:0005645)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Abnormal patella morphology (HP:0003045)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Fragmentation of the metacarpal epiphyses (HP:0009189)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL9A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Reduced arm span (HP:0012770)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Myopathy (HP:0003198)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A1
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Knee pain (HP:0030839)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Gene: COL9A1
Phenotype: Knee pain (HP:0030839)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A1
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A1
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Gene: COL9A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)