Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency

Preferred Label : Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;

Symbol : CMS9;

CISMeF acronym : CMS9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the skeletal muscle receptor tyrosine kinase gene (MUSK, 601296.0001);

Prefixed ID : #616325;

Details

Origin ID

616325;

UMLS CUI

C4225368;

CISMeF manual mappings
- congenital myasthenic syndrome 9 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 9 [DO Concept]
Genes related to phenotype
- Muscle, skeletal, receptor tyrosine kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Gowers sign [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Neck muscle weakness [HPO term]
- Neonatal hypotonia [HPO term]
- Ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 9 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

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