TaoMedAI/RareMedData huggingface dataset:
Gene: COL11A2
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Short nose (HP:0003196)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Cupped ribs (HP:0000887)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Broad ribs (HP:0000885)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Mild myopia (HP:0025573)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL11A2
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL11A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Flared femoral metaphysis (HP:0002834)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Flat face (HP:0012368)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: High myopia (HP:0011003)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL11A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL11A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Micromelia (HP:0002983)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Round face (HP:0000311)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Degenerative vitreoretinopathy (HP:0007964)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Stickler syndrome type 3; Stickler syndrome, non-ocular type; Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED (ORPHA:166100)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 13 (OMIM:601868)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 53 (OMIM:609706)
Gene: COL11A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Strabismus (HP:0000486)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Short neck (HP:0000470)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Short neck (HP:0000470)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Cataract (HP:0000518)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Sandal gap (HP:0001852)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Proptosis (HP:0000520)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Fibrochondrogenesis (ORPHA:2021)
Gene: COL11A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL11A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: OSMED; Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
Gene: COL11A2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL11A2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL11A2
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: COL11A2
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: COL11A2
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: COL12A1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL12A1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL12A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Myopathic EDS; Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome (ORPHA:536516)
Gene: COL12A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL12A1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL12A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Gene: COL12A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)