Amyotrophic lateral sclerosis 23

Preferred Label : Amyotrophic lateral sclerosis 23;

Symbol : ALS23;

CISMeF acronym : ALS23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the annexin A11 gene (ANXA11, 602572.0001);

Prefixed ID : #617839;

Details

Origin ID

617839;

UMLS CUI

C4693381;

Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 23 [NCIt concept]
DO Cross reference
- amyotrophic lateral sclerosis type 23 [DO Concept]
Genes related to phenotype
- Annexin a11 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Dementia [HPO term]
- Dysphagia [HPO term]
- Late onset [HPO term]
- Middle age onset [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 23 [NCIt concept]

Keyword's position in hierarchy(ies) :

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