Hermansky-Pudlak syndrome 10

Hermansky-Pudlak syndrome 10

http://purl.obolibrary.org/obo/MONDO_0014885

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome type 10 HPS10 Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome 10; HPS10 AP3D1 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome caused by mutation in AP3D1

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This is just here as a test because I lose it

Term information

database cross reference

GARD:16180 (OMIM:617050)
OMIM:617050 (MONDO:equivalentTo)
UMLS:C4310746 (MONDO:ncbi_mim2gene_medline)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/617050

http://linkedlifedata.com/resource/umls/id/C4310746

MONDO:0014885

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014885

Term relations

Subclass of:

Hermansky-Pudlak syndrome