Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Toxic myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myopathy caused by snake bite |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Quail myopathy of Lesbos |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Alcohol myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Primary fibromyalgia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Structure of muscle acting on joint |
Is a |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
|
Acetazolamide responsive myotonia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myotonia fluctuans |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myotonia permanens |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Spastic paraparesis co-occurrent with deafness |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Desmin related myopathy with Mallory body-like inclusions |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Proximal myotonic myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2D |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2A |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
5 |
Myalgia caused by statin |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant centronuclear myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2C |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2F |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant limb girdle muscular dystrophy type 1B |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2B |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2I |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Juvenile dermatomyositis co-occurrent with respiratory involvement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Myopathy co-occurrent and due to polymyositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Macrophagic myofasciitis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
On examination - muscle hypertrophy present |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Muscle hypertrophy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudohypertrophy of muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hemihypertrophy of muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Enlargement of skeletal muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Muscular pseudohypertrophy and hypothyroidism syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Bethlem myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Bethlem myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Transection of muscle of eye |
Procedure site - Direct |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Myopathy of extraocular muscles |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Multiple transections of muscles of eye, two or more muscles |
Procedure site - Direct |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Orbital myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ocular myasthenia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Acute orbital myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Superior oblique myokymia |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Chronic orbital myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ocular myasthenia with strabismus |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Autosomal dominant limb girdle muscular dystrophy type 1B |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive limb girdle muscular dystrophy type 2E |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked myopathy with excessive autophagy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant limb girdle muscular dystrophy type 1A |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1A |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1C |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1C |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1D |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1D |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1E |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1E |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1F |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1F |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal dominant limb girdle muscular dystrophy type 1G |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant limb girdle muscular dystrophy type 1G |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Autosomal recessive limb girdle muscular dystrophy type 2G |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2K |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Puerto Rican infant hypotonia syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, developmental delay, contracture syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Severe X-linked mitochondrial encephalomyopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Duane anomaly, myopathy, scoliosis syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
6 |
Autoimmune myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Secondary rhabdomyolysis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Epidermolysis bullosa simplex with muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
6 |
Muscular dystrophy Selcen type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Native American myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Native American myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
5 |
Autosomal recessive limb girdle muscular dystrophy type 2J |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2O |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial myopathy with sideroblastic anemia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hepatic glycogen synthase deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Muscle and heart glycogen synthase deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked spasticity, intellectual disability, epilepsy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital muscular dystrophy Paradas type |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital muscular dystrophy Paradas type |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Myopathy co-occurrent and due to hypercalcemia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Distal myopathy 2 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Genetic recurrent myoglobinuria |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant myoglobinuria |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Myotonia congenita |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2Y |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Distal myopathy Welander type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Distal myopathy Welander type |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
On examination - painful arc |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2P |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2Q |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2L |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2N |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2M |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |