TaoMedAI/RareMedData huggingface dataset:
Gene: ANO5
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Scoliosis (HP:0002650)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Pelvic girdle muscle atrophy (HP:0008988)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Mandibular osteomyelitis (HP:0007626)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Myalgia (HP:0003326)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Middle age onset (HP:0003596)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: ANO5
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Facial palsy (HP:0010628)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Scapular winging (HP:0003691)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Difficulty running (HP:0009046)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Difficulty running (HP:0009046)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Young adult onset (HP:0011462)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Myopathy (HP:0003198)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: ANO5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Broad jaw (HP:0012802)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: ANO5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Osteopenia (HP:0000938)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Osteopenia (HP:0000938)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Diaphyseal cortical sclerosis (HP:0005045)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: GDD; Gnathodiaphyseal dysplasia (ORPHA:53697)
Gene: ANO5
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Gene: ANO5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)