Hermansky-Pudlak syndrome type 7

Preferred Label : Hermansky-Pudlak syndrome type 7;

ICD-11 synonym : HPS7 - [Hermansky-Pudlak syndrome type 7] (MIM 614076); HPS7 - [Hermansky-Pudlak syndrome type 7];

ICD-11 acronym : HPS7;

Details

Origin ID

1385835737;

UMLS CUI

C3279756;

Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 7 [DO Concept]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
- Hermansky-pudlak syndrome 7 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky-Pudlak syndrome 7 [DO Concept]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
- Hermansky-pudlak syndrome 7 [OMIM Phenotype]

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