TaoMedAI/RareMedData huggingface dataset:
Gene: HSPG2
Phenotype: Low anterior hairline (HP:0000294)
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: Delayed cranial suture closure (HP:0000270)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Malar flattening (HP:0000272)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Malar flattening (HP:0000272)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Anterior bowing of long bones (HP:0006473)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Long eyelashes in irregular rows (HP:0007740)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Long eyelashes in irregular rows (HP:0007740)
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: Coxa vara (HP:0002812)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Coxa vara (HP:0002812)
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 dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Kyphosis (HP:0002808)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Kyphosis (HP:0002808)
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: Arthrogryposis multiplex congenita (HP:0002804)
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: Hydrocephalus (HP:0000238)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Overgrowth (HP:0001548)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Anisospondyly (HP:0002879)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Anisospondyly (HP:0002879)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: High palate (HP:0000218)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: High palate (HP:0000218)
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: Polyhydramnios (HP:0001561)
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: Everted lower lip vermilion (HP:0000232)
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: Prenatal movement abnormality (HP:0001557)
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: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Genu valgum (HP:0002857)
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: Death in infancy (HP:0001522)
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: Trismus (HP:0000211)
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: Umbilical hernia (HP:0001537)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Umbilical hernia (HP:0001537)
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: Pursed lips (HP:0000205)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Pursed lips (HP:0000205)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Obesity (HP:0001513)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Supernumerary tooth (HP:0011069)
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: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Flat face (HP:0012368)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Flat face (HP:0012368)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Flat face (HP:0012368)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Flat face (HP:0012368)
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: Overfolded helix (HP:0000396)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Overfolded helix (HP:0000396)
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: Thoracic hypoplasia (HP:0005257)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Miscarriage (HP:0005268)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Laryngomalacia (HP:0001601)
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: Dysphonia (HP:0001618)
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: Cervical kyphosis (HP:0002947)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Abnormal femoral epiphysis morphology (HP:0006499)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Bowing of the long bones (HP:0006487)
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: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Low-set ears (HP:0000369)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Long philtrum (HP:0000343)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Long philtrum (HP:0000343)
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: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Increased bone mineral density (HP:0011001)
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: Micrognathia (HP:0000347)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Micrognathia (HP:0000347)
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: Micromelia (HP:0002983)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Micromelia (HP:0002983)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Micromelia (HP:0002983)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Micromelia (HP:0002983)
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: Bowing of the legs (HP:0002979)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hypertelorism (HP:0000316)
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: Patent ductus arteriosus (HP:0001643)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Weak voice (HP:0001621)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Weak voice (HP:0001621)
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: Abnormally high-pitched voice (HP:0001620)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Abnormally high-pitched voice (HP:0001620)
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: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)