TaoMedAI/RareMedData huggingface dataset:
Gene: HSPB1
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: HSPB1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CMT2F; Autosomal dominant Charcot-Marie-Tooth disease type 2F (ORPHA:99940)
Gene: HSPB1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Gene: IGSF3
Phenotype: Epiphora (HP:0009926)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Periorbital edema (HP:0100539)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Dacryocystocele (HP:0030752)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Sinusitis (HP:0000246)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: IGSF3
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Gene: HSPD1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Poor head control (HP:0002421)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Head titubation (HP:0002599)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Apnea (HP:0002104)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT (OMIM:605280)
Gene: HSPD1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Strabismus (HP:0000486)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPD1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 4 (OMIM:612233)
Gene: HSPD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SPG13; Autosomal dominant spastic paraplegia type 13 (ORPHA:100994)
Gene: HSPG2
Phenotype: Myotonia (HP:0002486)
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: Brachydactyly (HP:0001156)
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 speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
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: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Testicular torsion (HP:0100813)
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: Hypertonia (HP:0001276)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hyporeflexia (HP:0001265)
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: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Wrist flexion contracture (HP:0001239)
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: Decreased testicular size (HP:0008734)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Decreased testicular size (HP:0008734)
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: Hypoplasia of penis (HP:0008736)
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 immune system physiology (HP:0010978)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Waddling gait (HP:0002515)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Neonatal death (HP:0003811)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Hepatic steatosis (HP:0001397)
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 liver (HP:0001392)
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 kidney (HP:0000077)
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 urinary system (HP:0000079)
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 ureter (HP:0000069)
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: Congenital hip dislocation (HP:0001374)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Hip dysplasia (HP:0001385)
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 stiffness (HP:0001387)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Joint stiffness (HP:0001387)
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 hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Hypospadias (HP:0000047)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Inguinal hernia (HP:0000023)
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: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Muscle weakness (HP:0001324)
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)