TaoMedAI/RareMedData huggingface dataset:
Gene: GUSB
Phenotype: Anterior beaking of lower thoracic vertebrae (HP:0004607)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Urinary glycosaminoglycan excretion (HP:0003541)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Severe short stature (HP:0003510)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Lymphedema (HP:0001004)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Photophobia (HP:0000613)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Fetal onset (HP:0011461)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Epicanthus (HP:0000286)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Diastasis recti (HP:0001540)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Ascites (HP:0001541)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Flat face (HP:0012368)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Airway obstruction (HP:0006536)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Spatulate ribs (HP:0012307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Short neck (HP:0000470)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Beta-glucuronidase deficiency; Sly disease; MPS7; MPSVII; Mucopolysaccharidosis type VII; Mucopolysaccharidosis type 7 (ORPHA:584)
Gene: GUSB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUSB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Visual impairment (HP:0000505)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Gene: GUSB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GUSB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GYG1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: T-wave inversion (HP:0010872)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: T-wave inversion (HP:0010872)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Pelvic girdle amyotrophy (HP:0008946)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Middle age onset (HP:0003596)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Late onset (HP:0003584)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Scapular winging (HP:0003691)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Vertigo (HP:0002321)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Muscle fiber polyglucosan inclusion bodies (HP:0034766)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Palpitations (HP:0001962)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Young adult onset (HP:0011462)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)