Amyotrophic lateral sclerosis 8

Preferred Label : Amyotrophic lateral sclerosis 8;

Symbol : ALS8;

CISMeF acronym : ALS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vesicle-associated membrane protein-associated protein B gene (VAPB, 605704.0001);

Prefixed ID : #608627;

Details

Origin ID

608627;

UMLS CUI

C1837728;

Automatic exact mappings (from CISMeF team)
- VAMP associated protein B and C [ORDO Gene]
- VAMP associated protein B and C [HGNC gene]
- VAPB wt Allele [NCIt concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 8 [NCIt concept]
- Amyotrophic lateral sclerosis type 8 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 8 [MeSH concept]
- amyotrophic lateral sclerosis 8 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 8 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 8 [DO Concept]
Genes related to phenotype
- Vamp-associated protein b and C [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fasciculations [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Muscle spasm [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Postural tremor [HPO term]
- Progressive muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
Not associated HPO term(s)
- Cognitive impairment [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 8 [NCIt concept]
- Amyotrophic lateral sclerosis type 8 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 8 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 8 [MeSH concept]

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