hermansky pudlak syndrome 2

Preferred Label : hermansky pudlak syndrome 2;

MeSH synonym : platelet defects and oculocutaneous albinism; Hermansky-Pudlak syndrome 2;

Origin ID

C537709;

UMLS CUI

C1842362;

Currated CISMeF NLP mapping
- Hermansky-Pudlak Syndrome 2 [NCIt 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]
MeSH term(s) associated for indexing
- hermanski-pudlak syndrome [MeSH Descriptor]
Record concept(s)
- Hermansky Pudlak syndrome 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky-Pudlak Syndrome 2 [NCIt 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]