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Hermansky-Pudlak syndrome 6

Go to external page http://purl.obolibrary.org/obo/MONDO_0013558

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: HPS6 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 6 Hermansky-Pudlak syndrome caused by mutation in HPS6 Hermansky-Pudlak syndrome 6

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18335 (OMIM:614075)
  • OMIM:614075 (MONDO:equivalentTo)
  • NCIT:C150369 (MONDO:equivalentTo)
  • UMLS:C3888007 (MONDO:ncbi_mim2gene_medline)
  • DOID:0060544 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0060544

https://omim.org/entry/614075

http://linkedlifedata.com/resource/umls/id/C3888007

http://purl.obolibrary.org/obo/NCIT_C150369

id

MONDO:0013558

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013558