Hermansky-pudlak syndrome 9

Preferred Label : Hermansky-pudlak syndrome 9;

Symbol : HPS9;

CISMeF acronym : HPS9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the palladin gene (PLDN, 604310.0001);

Prefixed ID : #614171;

Details

Origin ID

614171;

UMLS CUI

C3280026;

Automatic exact mappings (from CISMeF team)
- biogenesis of lysosomal organelles complex 1 subunit 6 [ORDO Gene]
- biogenesis of lysosomal organelles complex 1 subunit 6 [HGNC gene]
Currated CISMeF NLP mapping
- Hermansky-Pudlak syndrome 9 [DO Concept]
- Hermansky-Pudlak syndrome type 9 [ICD-11 More detail]
- Hermansky-Pudlak syndrome type 9 [ORDO Disease]
DO Cross reference
- Hermansky-Pudlak syndrome 9 [DO Concept]
Genes related to phenotype
- Biogenesis of lysosome-related organelles complex 1, subunit 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital nystagmus [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmentation of the skin [HPO term]
- Leukopenia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency [ORDO Disease]
- Hermansky-Pudlak syndrome type 9 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky-Pudlak syndrome 9 [DO Concept]
- Hermansky-Pudlak syndrome type 9 [ORDO Disease]
- Hermansky-Pudlak syndrome type 9 [ICD-11 More detail]
Validated automatic mappings to NTBT
- Hermansky-Pudlak syndrome [ORDO Disease]

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