TaoMedAI/RareMedData huggingface dataset:
Gene: COL10A1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Genu varum (HP:0002970)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Genu varum (HP:0002970)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Osteosclerosis of ribs (HP:0006634)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Ulnar metaphyseal irregularity (HP:0004042)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Radial metaphyseal irregularity (HP:0004019)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Abnormal distal femoral metaphysis morphology (HP:0030299)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Brachydactyly (HP:0001156)
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: Brachydactyly (HP:0001156)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Long fingers (HP:0100807)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Broad ischia (HP:0100865)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Stillbirth (HP:0003826)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 37 (OMIM:618533)
Gene: COL11A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Rhizomelia (HP:0008905)
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: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Glossoptosis (HP:0000162)
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: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Upper airway obstruction (HP:0002781)
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: Angle closure glaucoma (HP:0012109)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Midface retrusion (HP:0011800)
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: Midface retrusion (HP:0011800)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Small hand (HP:0200055)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Posterior vertebral hypoplasia (HP:0008451)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Lumbar hypolordosis (HP:0034770)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Short palm (HP:0004279)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: COL11A1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Short stature (HP:0004322)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Short stature (HP:0004322)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Marshall syndrome (ORPHA:560)
Gene: COL11A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Stickler syndrome type 2 (ORPHA:90654)
Gene: COL11A1
Phenotype: Broad long bones (HP:0005622)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Arthropathy (HP:0003040)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Gene: COL11A1
Phenotype: Metaphyseal widening (HP:0003016)
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: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Short long bone (HP:0003026)
Associated disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Gene: COL11A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)