Sphingomyelin phosphodiesterase 1, acid lysosomal

Preferred Label : Sphingomyelin phosphodiesterase 1, acid lysosomal;

Symbol : SMPD1;

CISMeF acronym : SMPD1;

Type : Gene;

Alternative titles and symbols : Sphingomyelinase, acid; ASM;

Ensembl ID : ENSG00000166311;

Prefixed ID : *607608;

Détails

Origin ID

607608;

UMLS CUI

C1420259;

Automatic exact mappings (from CISMeF team)
- Acid sphingomyelinase [LOINC component]
- Acid sphingomyelinase (substance) [SNOMED CT concept]
- Aggressive Systemic Mastocytosis [NCIt concept]
- American Samoa [NCIt concept]
- Assamese Language [NCIt concept]
- H19 imprinted maternally expressed transcript [ORDO Gene]
- H19 wt Allele [NCIt concept]
- SMPD1 Gene [NCIt concept]
- SMPD1 gene [LOINC component]
- SMPD1 wt Allele [NCIt concept]
- Sphingomyelin Phosphodiesterase [NCIt concept]
- aggressive systemic mastocytosis [DO Concept]
- sphingomyelin phosphodiesterase 1 [ORDO Gene]
- sphingomyelin phosphodiesterase 1 [HGNC gene]
HGNC gene
- sphingomyelin phosphodiesterase 1 [HGNC gene]
NCIt concept(s)
- SMPD1 Gene [NCIt concept]
- SMPD1 wt Allele [NCIt concept]
- Sphingomyelin Phosphodiesterase [NCIt concept]
ORDO concept(s)
- sphingomyelin phosphodiesterase 1 [ORDO Gene]
Phenotypes related
- Niemann-pick disease, type a [OMIM Phenotype]
- Niemann-pick disease, type b [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SMPD1 Gene [NCIt concept]
- SMPD1 gene [LOINC component]
- sphingomyelin phosphodiesterase 1 [HGNC gene]

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

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