HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Preferred Label : HPS3 biogenesis of lysosomal organelles complex 2 subunit 1;

Approved symbol HGNC : HPS3;

Alias symbols HGNC : SUTAL; BLOC2S1;

Chromosome HGNC : 3q24;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000163755;

Details

Origin ID

HGNC:15597;

UMLS CUI

C1423606;

Automatic exact mappings (from CISMeF team)
- Hermansky-pudlak syndrome 3 [OMIM Phenotype]
- Hps3 biogenesis of lysosomal organelles complex 2, subunit 1 [OMIM gene]
OMIM gene
- Hps3 biogenesis of lysosomal organelles complex 2, subunit 1 [OMIM gene]
Orphanet gene
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HPS3 gene [LOINC component]
- Hps3 biogenesis of lysosomal organelles complex 2, subunit 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients