Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myopathy caused by local anaesthetic |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult-onset overlap myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Limb girdle muscular dystrophy due to POMK deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Measurement of muscle tone (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Myopathic Ehlers-Danlos syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital myopathy with reduced type 2 muscle fibers (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Administration of inactivated Japanese encephalitis virus adsorbed vaccine via intramuscular route |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Administration of vaccine product containing only Salmonella enterica subspecies enterica serovar Typhi capsular polysaccharide Vi antigen via intramuscular route (procedure) |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Administration of vaccine product containing only Rabies lyssavirus antigen via intramuscular route (procedure) |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital multi-minicore disease with external ophthalmoplegia (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pain in multiple muscles |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Inflammation of multiple muscles |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorder of skeletal muscle due to systemic sclerosis (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Andersen Tawil syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
POMGNT2-related limb girdle muscular dystrophy R24 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Calpain-3-related limb girdle muscular dystrophy D4 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
GNAO1-related developmental delay, seizures, movement disorder spectrum |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Steroid-induced myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chloroquine myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alcohol myopathy (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute alcoholic myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chronic alcoholic myopathy (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nocturnal muscle cramp |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myotonia caused by drug |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intramuscular injection of human tetanus immunoglobulin |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of muscle with graft of fascia (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intramuscular infiltration of neurolytic substance (procedure) |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intramuscular lipoma |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Calcinosis universalis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Delayed onset muscle pain (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic orbital myositis (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microphthalmia with brain atrophy syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Disorder of skeletal muscle caused by statin (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Necrotizing myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Injection of botulinum toxin into anal sphincter |
Procedure site - Indirect (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Repair of muscle with graft of tendon (procedure) |
Procedure site - Direct (attribute) |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intermediate collagen VI-related muscular dystrophy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Exercise induced muscle fatigue |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fatigable weakness of muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Episodic flaccidity of muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Exercise induced myalgia (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Episodic hypotonia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Generalized muscle weakness (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Generalised hypertrophy of skeletal muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Myasthenia gravis caused by muscle-specific tyrosine kinase antibodies (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Increased fatigable weakness of muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late onset weakness of distal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late onset weakness of proximal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
2p21 microdeletion syndrome without cystinuria (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Progressive weakness of muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive weakness of distal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive weakness of proximal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe hypotonia of muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe hypertrophy of skeletal muscle (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic ataxia (finding) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Weakness of axial muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Weakness of scapuloperoneal muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intermittent painful muscle spasm |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |