Amyotrophic lateral sclerosis 20

Preferred Label : Amyotrophic lateral sclerosis 20;

Symbol : ALS20;

CISMeF acronym : ALS20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heterogeneous nuclear ribonucleoprotein A1 gene (164017.0002);

Prefixed ID : #615426;

Détails

Origin ID

615426;

UMLS CUI

C3715156;

Automatic exact mappings (from CISMeF team)
- amyotrophic lateral sclerosis type 20 [DO Concept]
- heterogeneous nuclear ribonucleoprotein A1 [ORDO Gene]
- heterogeneous nuclear ribonucleoprotein A1 [HGNC gene]
DO Cross reference
- amyotrophic lateral sclerosis type 20 [DO Concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein a1 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Muscle fiber inclusion bodies [HPO term]
- Muscular dystrophy [HPO term]
- Rimmed vacuoles [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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