Hermansky-Pudlak Syndrome 1

Preferred Label : Hermansky-Pudlak Syndrome 1;

NCIt synonyms : HPS1;

NCIt definition : An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS1 gene, encoding Hermansky-Pudlak syndrome 1 protein. This sub-type is associated with pulmonary fibrosis.;

Details

Origin ID

C150367;

UMLS CUI

C2931875;

Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 1 [DO Concept]
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]
See also inter- (CISMeF)
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]
- Hps1 biogenesis of lysosomal organelles complex 3, subunit 1 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH concept]
- Delta storage pool disease [MedDRA LLT]
- Hermansky-Pudlak syndrome 1 [DO Concept]
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH Supplementary Concept]
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
- HPS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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