Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Pure mitochondrial myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myofascial pain syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
7 |
Autosomal recessive limb girdle muscular dystrophy type 2S |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2T |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive limb girdle muscular dystrophy type 2R |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial myopathy, lactic acidosis, deafness syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Familial infantile myasthenia |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Acetylcholine resynthesis deficiency |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Neuromuscular junction disorder caused by organic phosphorus compound ingestion |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Distal myopathy with posterior leg and anterior hand involvement |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Distal myopathy with posterior leg and anterior hand involvement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Distal myopathy with early respiratory muscle involvement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Distal myopathy with early respiratory muscle involvement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Structure of adductor muscle |
Is a |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
|
Myokymia of left superior oblique muscle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Myokymia of right superior oblique muscle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Neuralgic amyotrophy of left brachial plexus |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Neuralgic amyotrophy of right brachial plexus |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myositis caused by Mycobacterium tuberculosis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Juvenile polymyositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intermittent claudication |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Venous intermittent claudication |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital muscular dystrophy with hyperlaxity |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital myopathy with myasthenic-like onset |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Fetal akinesia, cerebral and retinal hemorrhage syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Familial dyskinesia and facial myokymia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Finnish upper limb onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Kelch like family member 9 related early-onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Oculopharyngodistal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
4 |
Menstrual cramp |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Cylindrical spirals myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Laing early-onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital muscular dystrophy type 1B |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital myopathy with internal nuclei and atypical cores |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Muscle filaminopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myopathy with hexagonally cross-linked tubular arrays |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
King Denborough syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Spheroid body myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Kelch like family member 9 related early-onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Myosclerosis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive myogenic arthrogryposis multiplex congenita |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal recessive myogenic arthrogryposis multiplex congenita |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital muscular dystrophy type 1B |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Finnish upper limb onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with hyperlaxity |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Laing early-onset distal myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Oculopharyngodistal myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Lethal multiple pterygium syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Distal myotilinopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Lethal infantile mitochondrial myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Metabolic myopathy due to lactate transporter defect |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Inherited spastic paresis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Rippling muscle disease with myasthenia gravis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Late-onset distal myopathy Markesbery Griggs type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Desmin-related myofibrillar myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Benign Samaritan congenital myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked parkinsonism with spasticity syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hereditary inclusion body myopathy type 4 |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Proximal myopathy with extrapyramidal signs |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Distal myopathy with posterior leg and anterior hand involvement |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Adult-onset distal myopathy due to valosin containing protein mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Distal myopathy with early respiratory muscle involvement |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Distal myopathy Welander type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy due to lamin A/C mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital muscular dystrophy with integrin alpha-7 deficiency |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant limb-girdle muscular dystrophy type 1H |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive lower motor neuron disease with childhood onset |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Deep full thickness burn involving muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Viral myalgia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Coxsackie muscle infection |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Syphilis of muscle |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Human immunodeficiency virus myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital muscular dystrophy Paradas type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Duane anomaly, myopathy, scoliosis syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, developmental delay, contracture syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Early onset myopathy with fatal cardiomyopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Bethlem myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Puerto Rican infant hypotonia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Epidermolysis bullosa simplex with muscular dystrophy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Sarcopenia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
1 |
Paresis of left lower limb |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Paresis of right lower limb |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital lethal myopathy Compton North type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Existential restriction modifier |
2 |