biogenesis of lysosomal organelles complex 1 subunit 3

Preferred Label : biogenesis of lysosomal organelles complex 1 subunit 3;

Approved symbol HGNC : BLOC1S3;

Name synonyms HGNC : Hermansky-Pudlak syndrome 8; BLOC-1 subunit 3; Biogenesis of Lysosome-related Organelles complex-1 Subunit 3;

Alias symbols HGNC : BLOS3; HPS8;

Chromosome HGNC : 19q13.32;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000189114;

Details

Origin ID

HGNC:20914;

UMLS CUI

C1538326;

Automatic exact mappings (from CISMeF team)
- Biogenesis of lysosome-related organelles complex 1, subunit 3 [OMIM gene]
- Hermansky-Pudlak syndrome 8 [DO Concept]
- Hermansky-pudlak syndrome 8 [OMIM Phenotype]
- biogenesis of lysosomal organelles complex 1 subunit 3 [ORDO Gene]
OMIM gene
- Biogenesis of lysosome-related organelles complex 1, subunit 3 [OMIM gene]
Orphanet gene
- biogenesis of lysosomal organelles complex 1 subunit 3 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Biogenesis of lysosome-related organelles complex 1, subunit 3 [OMIM gene]
- Hermansky-Pudlak syndrome type 8 [ORDO Disease]

Keyword's position in hierarchy(ies) :

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