TaoMedAI/RareMedData huggingface dataset:
Gene: CCN6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Wrist swelling (HP:0001225)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Waddling gait (HP:0002515)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Waddling gait (HP:0002515)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Joint swelling (HP:0001386)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Joint swelling (HP:0001386)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Joint stiffness (HP:0001387)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlarged metacarpophalangeal joints (HP:0006163)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormal circulating C-reactive protein concentration (HP:0032436)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Periarticular calcification (HP:0025477)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormality of hand joint mobility (HP:0006256)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlarged interphalangeal joints (HP:0006247)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlarged interphalangeal joints (HP:0006247)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlargement of the proximal femoral epiphysis (HP:0003371)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlargement of the proximal femoral epiphysis (HP:0003371)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Hyperconvex vertebral body endplates (HP:0004603)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormal erythrocyte sedimentation rate (HP:0025021)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Narrow small joints of the hand (HP:0004267)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Short stature (HP:0004322)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Arthropathy (HP:0003040)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Infancy onset short-trunk short stature (HP:0011406)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Irregularity of vertebral bodies (HP:0004582)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Coxa vara (HP:0002812)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Coxa vara (HP:0002812)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Genu valgum (HP:0002857)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Abnormal ilium morphology (HP:0002867)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Polyarticular arthropathy (HP:0005195)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Genu varum (HP:0002970)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Genu varum (HP:0002970)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; PPD; Progressive pseudorheumatoid dysplasia (ORPHA:1159)
Gene: CCN6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Gene: CCN6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCN6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCN6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)