Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia

Preferred Label : Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia;

Symbol : ALS6;

CISMeF acronym : ALS6;

Type : Phenotype, molecular basis known;

Prefixed ID : #608030;

Details

Origin ID

608030;

UMLS CUI

C2931786;

Automatic exact mappings (from CISMeF team)
- FUS wt Allele [NCIt concept]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- symbol withdrawn ALS6 [HGNC gene]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia [NCIt concept]
- Amyotrophic lateral sclerosis type 6 (disorder) [SNOMED CT concept]
- Amyotrophic lateral sclerosis, type 6 [MeSH concept]
- amyotrophic lateral sclerosis 6, autosomal recessive [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 6, autosomal recessive [MeSH concept]
- amyotrophic lateral sclerosis type 6 [DO Concept]
- amyotrophic lateral sclerosis, type 6 [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 6 [DO Concept]
Genes related to phenotype
- Fus rna-binding protein [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fasciculations [HPO term]
- Gait disturbance [HPO term]
- Hyporeflexia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Proximal amyotrophy [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia [NCIt concept]
- Amyotrophic lateral sclerosis type 6 (disorder) [SNOMED CT concept]
- Amyotrophic lateral sclerosis, type 6 [MeSH concept]
- amyotrophic lateral sclerosis, type 6 [MeSH Supplementary Concept]

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