TaoMedAI/RareMedData huggingface dataset:
Gene: HSPG2
Phenotype: Absent speech (HP:0001344)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Coxa valga (HP:0002673)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Coxa valga (HP:0002673)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Skeletal dysplasia (HP:0002652)
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: Scoliosis (HP:0002650)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Wormian bones (HP:0002645)
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: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Narrow mouth (HP:0000160)
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: Cleft palate (HP:0000175)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Increased placental thickness (HP:0032548)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Renal cyst (HP:0000107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Delayed skeletal maturation (HP:0002750)
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: Abnormality of the immune system (HP:0002715)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Constipation (HP:0002019)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Myalgia (HP:0003326)
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: Dysphagia (HP:0002015)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hyperlordosis (HP:0003307)
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: Spinal rigidity (HP:0003306)
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: Midface retrusion (HP:0011800)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Encephalocele (HP:0002084)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
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: Respiratory insufficiency (HP:0002093)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Respiratory insufficiency (HP:0002093)
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: Lower limb asymmetry (HP:0100559)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Malignant hyperthermia (HP:0002047)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormally ossified vertebrae (HP:0100569)
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 epiphysis morphology (HP:0005930)
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: Joint contracture of the hand (HP:0009473)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: EMG abnormality (HP:0003457)
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: Apnea (HP:0002104)
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: Coronal cleft vertebrae (HP:0003417)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Spinal canal stenosis (HP:0003416)
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 speech pattern (HP:0002167)
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 speech pattern (HP:0002167)
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: Camptodactyly of finger (HP:0100490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Metatarsus valgus (HP:0010508)
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: Infantile onset (HP:0003593)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Generalized hirsutism (HP:0002230)
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: Distichiasis (HP:0009743)
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 straight spine (HP:0100795)
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: Clubbing of fingers (HP:0100759)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Pterygium (HP:0001059)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Pterygium (HP:0001059)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hirsutism (HP:0001007)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Odontogenic neoplasm (HP:0100612)
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 phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Ectopia lentis (HP:0001083)
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: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)