Amyotrophic lateral sclerosis 11

Preferred Label : Amyotrophic lateral sclerosis 11;

Symbol : ALS11;

CISMeF acronym : ALS11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0006);

Prefixed ID : #612577;

Details

Origin ID

612577;

UMLS CUI

C2675491;

Automatic exact mappings (from CISMeF team)
- FIG4 phosphoinositide 5-phosphatase [ORDO Gene]
- FIG4 phosphoinositide 5-phosphatase [HGNC gene]
- FIG4 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 11 [NCIt concept]
- amyotrophic lateral sclerosis 11 [MeSH concept]
- amyotrophic lateral sclerosis 11 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 11 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 11 [DO Concept]
Genes related to phenotype
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbar signs [HPO term]
- Skeletal muscle atrophy [HPO term]
- Upper motor neuron dysfunction [HPO term]
Not associated HPO term(s)
- Decreased nerve conduction velocity [HPO term]
- Somatic sensory dysfunction [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 11 [NCIt concept]
- amyotrophic lateral sclerosis 11 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 11 [MeSH concept]
- amyotrophic lateral sclerosis type 11 [DO Concept]

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