Amyotrophic lateral sclerosis 19

Preferred Label : Amyotrophic lateral sclerosis 19;

Symbol : ALS19;

CISMeF acronym : ALS19;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the V-ERB-B2 avian erythroblastic leukemia viral oncogene homolog 4 gene (ERBB4, 600543.0001);

Prefixed ID : #615515;

Détails

Origin ID

615515;

UMLS CUI

C3715155;

Automatic exact mappings (from CISMeF team)
- ERBB4 wt Allele [NCIt concept]
- amyotrophic lateral sclerosis type 19 [DO Concept]
- erb-b2 receptor tyrosine kinase 4 [ORDO Gene]
- erb-b2 receptor tyrosine kinase 4 [HGNC gene]
DO Cross reference
- amyotrophic lateral sclerosis type 19 [DO Concept]
Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 4 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Loss of ability to walk [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
See also inter- (CISMeF)
- HNRNPA1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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