TaoMedAI/RareMedData huggingface dataset:
Gene: HSPG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Short stature (HP:0004322)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Short stature (HP:0004322)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Cachexia (HP:0004326)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Broad long bones (HP:0005622)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Short long bone (HP:0003026)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Short long bone (HP:0003026)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Irritability (HP:0000737)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Autism (HP:0000717)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Short ribs (HP:0000773)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Myopathy (HP:0003198)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Myopathy (HP:0003198)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Rib fusion (HP:0000902)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Bifid ribs (HP:0000892)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Hip contracture (HP:0003273)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hip contracture (HP:0003273)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Aplasia/Hypoplasia affecting the eye (HP:0008056)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Full cheeks (HP:0000293)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)