TaoMedAI/RareMedData huggingface dataset:
Gene: COL9A3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Flat face (HP:0012368)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: High myopia (HP:0011003)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Gene: COL9A3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: Moderate myopia (HP:0031624)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Astigmatism (HP:0000483)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL9A3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Pes planus (HP:0001763)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A3
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Ptosis (HP:0000508)
Associated disease: STICKLER SYNDROME, TYPE VI (OMIM:620022)
Gene: COL9A3
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A3
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL9A3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL9A3
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL9A3
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL9A3
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL9A3
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL9A3
Phenotype: Myopia (HP:0000545)
Associated disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Gene: COL10A1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Short tubular bones of the hand (HP:0001248)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Thick growth plates (HP:0025369)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metaphyseal cupping of proximal phalanges (HP:0006208)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Metaphyseal cupping of proximal phalanges (HP:0006208)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Widened proximal tibial metaphyses (HP:0005028)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Enlargement of the proximal femoral epiphysis (HP:0003371)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Abnormal hand metaphysis morphology (HP:0005923)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Mild short stature (HP:0003502)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Broad proximal phalanges of the hand (HP:0009852)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Broad middle phalanx of finger (HP:0009844)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Short stature (HP:0004322)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Short long bone (HP:0003026)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Distal femoral metaphyseal irregularity (HP:0045079)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Abnormal proximal femoral metaphysis morphology (HP:0006431)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Abnormal proximal femoral metaphysis morphology (HP:0006431)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Distal tibial bowing (HP:0006414)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Obesity (HP:0001513)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Gene: COL10A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Gene: COL10A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL10A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL10A1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)