Amyotrophic lateral sclerosis 3

Preferred Label : Amyotrophic lateral sclerosis 3;

Symbol : ALS3;

CISMeF acronym : ALS3;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). ALS is a degenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure usually within 3 to 5 years of symptom onset (Brown, 1995).;

Inheritance : Autosomal dominant;

Prefixed ID : %606640;

Details

Origin ID

606640;

UMLS CUI

C1847735;

Automatic exact mappings (from CISMeF team)
- amyotrophic lateral sclerosis 3 (autosomal dominant) [HGNC gene]
- amyotrophic lateral sclerosis type 3 [DO Concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis type 3 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 3 [MeSH concept]
- amyotrophic lateral sclerosis 3 [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 3 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bulbar signs [HPO term]
- Lower limb muscle weakness [HPO term]
Not associated HPO term(s)
- Cerebellar atrophy [HPO term]
- Dementia [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 3 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 3 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 3 [MeSH concept]

Keyword's position in hierarchy(ies) :

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