Myasthenia, limb-girdle, autoimmune

Preferred Label : Myasthenia, limb-girdle, autoimmune;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Myasthenia gravis, limb-girdle;

Inheritance : Isolated cases;

Neoplasia : Thymoma;

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : 159400;

Details

Origin ID

159400;

UMLS CUI

C1834635;

Broader ORDO disease(s)
- Myasthenia gravis [ORDO Disease]
Currated CISMeF NLP mapping
- myasthenia, Limb-Girdle, autoimmune [MeSH concept]
- myasthenia, Limb-Girdle, autoimmune [MeSH Supplementary Concept]
HPO term(s)
- Adult onset [HPO term]
- EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Fatigable weakness [HPO term]
- Hashimoto thyroiditis [HPO term]
- Isolated cases [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Neoplasm [HPO term]
- Ophthalmoparesis [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness due to defect at the neuromuscular junction [HPO term]
- Ptosis [HPO term]
- Sporadic [HPO term]
- Systemic lupus erythematosus [HPO term]
- Thymoma [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
ORDO concept(s)
- Myasthenia gravis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myasthenia, Limb-Girdle, autoimmune [MeSH Supplementary Concept]
- myasthenia, Limb-Girdle, autoimmune [MeSH concept]

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