TaoMedAI/RareMedData huggingface dataset:
Gene: COL11A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Short ribs (HP:0000773)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Short ribs (HP:0000773)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Short nose (HP:0003196)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Short nose (HP:0003196)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Posterior rib cupping (HP:0000922)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Long clavicles (HP:0000890)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Thin ribs (HP:0000883)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Broad ribs (HP:0000885)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Short femur (HP:0003097)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Tympanic membrane hypermobility (HP:6000015)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Tympanic membrane hypermobility (HP:6000015)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Knee pain (HP:0030839)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Ankle pain (HP:0030840)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: High palate (HP:0000218)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Omphalocele (HP:0001539)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Flat face (HP:0012368)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Flat face (HP:0012368)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: High myopia (HP:0011003)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Micromelia (HP:0002983)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Micromelia (HP:0002983)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Round face (HP:0000311)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Premature birth (HP:0001622)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Degenerative vitreoretinopathy (HP:0007964)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Thin clavicles (HP:0006645)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 37 (OMIM:618533)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Megalocornea (HP:0000485)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Short neck (HP:0000470)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Short neck (HP:0000470)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Short foot (HP:0001773)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Widely patent sagittal suture (HP:0005476)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Widely patent coronal suture (HP:0005442)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Proptosis (HP:0000520)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)