Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Glucose transport defect |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
storage disease med glykogenophobning, type II |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
lysosomal alpha-1,4-glucosidase-mangel infantil debut |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
lysosomal alpha-1,4-glucosidase-mangel juvenil debut |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
lysosomal alpha-1,4-glucosidase-mangel adult debut |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
hepatisk glycogenphosphorylasemangel |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Severe systemic illness-induced skeletal muscle wasting |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Deep biopsy of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Revision of extraocular muscle surgery |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Dermatomyositis sine myositis (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Sclerodermatomyositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Lengthening of tendons or muscles of the flexor compartment of the forearm |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Excision of single muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Flexorplasty of elbow |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Repair of muscle with graft of fascia (procedure) |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Advancement of eye muscle, multiple, with resection or recession |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Excision of the trapezium |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Biopsy of extraocular tendon |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Multiple transections of muscles of eye, two or more muscles |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Curettage of muscle |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Transfer of hand muscle origin |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Plastic operation on urethral sphincter by vaginal approach |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Repair of muscle of hand with graft (procedure) |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Curettage of muscle of hand |
Procedure site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Polymyositis with malignant disease |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Polymyositis associated with autoimmune disease |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Drug-induced polymyositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Dermatomyositis with malignant disease |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Muscular dystrophy with predominantly proximal limb girdle distribution |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
X-linked muscular dystrophy with limb girdle distribution |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
X-linked muscular dystrophy with abnormal dystrophin |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Intermediate X-linked muscular dystrophy (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Manifesting female carrier of X-linked muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
X-linked limb girdle muscular dystrophy with normal dystrophin |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Jis muskeldystrofi |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hereditary myopathy limited to females |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive muscular dystrophy with limb girdle distribution |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Alvorlig autosomal recessiv muskeldystrofi i barnealderen nordafrikansk type |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Reunion-Indiana Amish type muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Kongenit muskeldystrofi |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Western type of congenital muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Congenital muscular dystrophy with arthrogryposis multiplex congenita |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Ullrich congenital muscular dystrophy (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Eichsfeld type congenital muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Hutterite type of muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Adult onset autosomal recessive muscular dystrophy with normal dystrophin |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Autosomal dominant muscular dystrophy with gene located at 5q31 |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Late onset proximal muscular dystrophy with dysarthria |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Muscular dystrophy not predominantly limb girdle in distribution |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
X-linked muscular dystrophy not predominantly limb girdle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Benign skapuloperoneal muskeldystrofi med kardiomyopati |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive muscular dystrophy not predominantly limb girdle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Scapulohumeral muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Autosomal dominant muscular dystrophy not predominantly limb girdle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Benign scapuloperoneal muscular dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Severe scapuloperoneal muscular dystrophy with cardiomyopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Benign congenital muscular dystrophy with finger flexion contractures (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Distal muskeldystrofi med debut i voksenalder |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Benign congenital hypotonia |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Autosomal recessive centronuclear myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy with abnormality of histochemical fibre type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy with type I hypotrophy (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Congenital myopathy with uniform fiber type |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy with cytoplasmic inclusions |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy with tubular aggregates |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hereditær myositis ossificans |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Myopathy in acromegaly |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy in hyperparathyroidism |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy in hypoparathyroidism |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy in osteomalacia |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hypokalæmisk periodisk lammelse |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Lipid storage myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Mitochondrial cytopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Protein deficiency myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Potassium depletion myopathy |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Myopathy due to snake bite |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Drug-induced myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Chloroquine myopathy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Human immunodeficiency virus myopathy (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Congenital myotonic dystrophy |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Viral myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Benign acute myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Viral myalgia |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Gas gangrene of limb |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Uterine gas gangrene (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Intestinal gas gangrene |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
|
Fungal myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Protozoal myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Cestode myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Cysticercosis myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Hydatidosis myositis (disorder) |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
2 |
Nematode myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Trichinosis myositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Toxocariasis myositis |
Finding site |
True |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Focal nodular myositis (disorder) |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Eosinophilic polymyositis |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |
Secondary ossification of muscle |
Finding site |
False |
Skeletal muscle structure |
Inferred relationship |
Some |
1 |