Amyotrophic lateral sclerosis 18

Preferred Label : Amyotrophic lateral sclerosis 18;

Symbol : ALS18;

CISMeF acronym : ALS18;

Type : Phenotype, molecular basis known;

Prefixed ID : #614808;

Details

Origin ID

614808;

UMLS CUI

C3553719;

Automatic exact mappings (from CISMeF team)
- PFN1 wt Allele [NCIt concept]
- amyotrophic lateral sclerosis type 18 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 18 [DO Concept]
Genes related to phenotype
- Profilin 1 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fasciculations [HPO term]
- Muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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