Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia

Preferred Label : Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia;

Symbol : ALS12;

CISMeF acronym : ALS12;

Type : Phenotype, molecular basis known;

Prefixed ID : #613435;

Details

Origin ID

613435;

UMLS CUI

C3150692;

Automatic exact mappings (from CISMeF team)
- OPTN wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- amyotrophic lateral sclerosis type 12 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 12 [DO Concept]
Genes related to phenotype
- Optineurin [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Muscle weakness [HPO term]
- Tongue fasciculations [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 12 [DO Concept]

Keyword's position in hierarchy(ies) :

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