TaoMedAI/RareMedData huggingface dataset:
Gene: TPM2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Difficulty running (HP:0009046)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Short stature (HP:0004322)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Short stature (HP:0004322)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Psychosis (HP:0000709)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Joint contracture (HP:0034392)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Hip contracture (HP:0003273)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Pes valgus (HP:0008081)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Retrognathia (HP:0000278)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Narrow face (HP:0000275)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Long face (HP:0000276)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Trismus (HP:0000211)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Fatigue (HP:0012378)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Central core regions in muscle fibers (HP:0030230)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Short neck (HP:0000470)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Webbed neck (HP:0000465)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Pes planus (HP:0001763)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM2
Phenotype: Pes planus (HP:0001763)
Associated disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Gene: TPM2
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TPM2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM2
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Gene: TPM2
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: TPM2
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM2
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TPM3
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Poor head control (HP:0002421)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Gene: TPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Motor delay (HP:0001270)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Areflexia (HP:0001284)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Areflexia (HP:0001284)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: TPM3
Phenotype: Waddling gait (HP:0002515)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: TPM3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Gene: TPM3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: TPM3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: TPM3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)