TaoMedAI/RareMedData huggingface dataset:
Gene: COMP
Phenotype: Positive carpal Tinel sign (HP:0033672)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Limited hip movement (HP:0008800)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Joint stiffness (HP:0001387)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Scoliosis (HP:0002650)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Wind-swept deformity of the knees (HP:0100531)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Atlantoaxial dislocation (HP:0003414)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Small epiphyses (HP:0010585)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Small epiphyses (HP:0010585)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Small epiphyses (HP:0010585)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Hand pain (HP:0046505)
Associated disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Gene: COMP
Phenotype: Cervical spine instability (HP:0010646)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Severe short stature (HP:0003510)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Mild short stature (HP:0003502)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Irregular carpal bones (HP:0004236)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Irregular carpal bones (HP:0004236)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Fragmented epiphyses (HP:0100168)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Short long bone (HP:0003026)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Short long bone (HP:0003026)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Short long bone (HP:0003026)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Abnormal ossification involving the femoral head and neck (HP:0009107)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Childhood onset short-limb short stature (HP:0011405)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Shortening of all metacarpals (HP:0005720)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Limited hip extension (HP:0003093)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Limited hip extension (HP:0003093)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Small epiphyses of the phalanges of the hand (HP:0010236)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Knee joint hypermobility (HP:0045086)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Knee joint hypermobility (HP:0045086)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Knee pain (HP:0030839)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Ankle pain (HP:0030840)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Ankle pain (HP:0030840)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Increased laxity of ankles (HP:0006460)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Coxa vara (HP:0002812)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Arthralgia (HP:0002829)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Arthralgia (HP:0002829)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Kyphosis (HP:0002808)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Fragmented, irregular epiphyses (HP:0005063)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Genu valgum (HP:0002857)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Gene: COMP
Phenotype: Genu valgum (HP:0002857)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Genu valgum (HP:0002857)
Associated disease: Polyepiphyseal dysplasia type 1; Multiple epiphyseal dysplasia type 1; MED1; EDM1 (ORPHA:93308)
Gene: COMP
Phenotype: Genu valgum (HP:0002857)
Associated disease: Pseudoachondroplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia (ORPHA:750)
Gene: COMP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COMP
Phenotype: Flared femoral metaphysis (HP:0002834)
Associated disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Gene: COMP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COMP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)