Hermansky-Pudlak Syndrome 6

Preferred Label : Hermansky-Pudlak Syndrome 6;

NCIt synonyms : HPS6;

NCIt definition : An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS6 gene, encoding Hermansky-Pudlak syndrome 6 protein. Individuals with this type of syndrome, as well as with types 3 or 5, have the mildest symptoms.;

Details

Origin ID

C150369;

UMLS CUI

C3888007;

Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 6 [DO Concept]
- Hermansky-pudlak syndrome 6 [OMIM Phenotype]
See also inter- (CISMeF)
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ORDO Gene]
- Hps6 biogenesis of lysosomal organelles complex 2, subunit 3 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ORDO Gene]
- Hermansky-Pudlak syndrome 6 [DO Concept]
- Hermansky-pudlak syndrome 6 [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HPS6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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