Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia

Preferred Label : Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia;

Symbol : ALS15;

CISMeF acronym : ALS15;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ubiquilin 2 gene (UBQLN2, 300264.0001);

Prefixed ID : #300857;

Details

Origin ID

300857;

UMLS CUI

C3275459;

Automatic exact mappings (from CISMeF team)
- UBQLN2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- amyotrophic lateral sclerosis type 15 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 15 [DO Concept]
Genes related to phenotype
- Ubiquilin 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Athetosis [HPO term]
- Axonal loss [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Frontotemporal dementia [HPO term]
- Gliosis [HPO term]
- Paralysis [HPO term]
- Progressive [HPO term]
- X-linked dominant inheritance [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 type 15 [DO Concept]

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