Hermansky-Pudlak Syndrome 2

Preferred Label : Hermansky-Pudlak Syndrome 2;

NCIt synonyms : HPS2;

NCIt definition : An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the AP3B1 gene, encoding AP-3 complex subunit beta-1. Immunodeficiency due to neutropenia is a characteristic of this sub-type.;

Details

Origin ID

C150368;

UMLS CUI

C1842362;

Currated CISMeF NLP mapping
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome with neutropaenia [ICD-11 More detail]
- Hermansky-pudlak syndrome 2 [OMIM Phenotype]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Adaptor-related protein complex 3, beta-1 subunit [OMIM gene]
- adaptor related protein complex 3 subunit beta 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome with neutropaenia [ICD-11 More detail]
- Hermansky-pudlak syndrome 2 [OMIM Phenotype]
- hermansky pudlak syndrome 2 [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
- AP3B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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