Hermansky-Pudlak syndrome 5

Hermansky-Pudlak syndrome 5

http://purl.obolibrary.org/obo/MONDO_0013557

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome type 5 HPS5 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome caused by mutation in HPS5 Hermansky-Pudlak syndrome 5

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Term mappings

Preferred root terms

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C3888004 (MONDO:ncbi_mim2gene_medline)
GARD:18334 (OMIM:614074)
DOID:0060543 (MONDO:equivalentTo)
OMIM:614074 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3888004

http://purl.obolibrary.org/obo/DOID_0060543

https://omim.org/entry/614074

has related synonym

HPS5

MONDO:0013557

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013557

Term relations

Subclass of:

Hermansky-Pudlak syndrome without pulmonary fibrosis