Myasthenic syndrome, congenital, 17

Preferred Label : Myasthenic syndrome, congenital, 17;

Symbol : CMS17;

CISMeF acronym : CMS17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 4 gene (LRP4, 604270.0011);

Prefixed ID : #616304;

Details

Origin ID

616304;

UMLS CUI

C4225377;

CISMeF manual mappings
- congenital myasthenic syndrome 17 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 17 [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Difficulty walking [HPO term]
- Feeding difficulties [HPO term]
- Hyporeflexia [HPO term]
- Muscle weakness [HPO term]
- Ptosis [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 17 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients