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Hermansky-Pudlak syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0008748

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0060539 (MONDO:equivalentTo)
  • OMIM:203300 (MONDO:equivalentTo)
  • NCIT:C150367 (MONDO:equivalentTo)
  • UMLS:C2931875 (OMIM:203300)
  • MESH:C538539 (MONDO:equivalentTo)
abbreviation
HPS1 [ MONDO:Lexical OMIM:203300 ]

definition

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931875, http://identifiers.org/mesh/C538539, http://purl.obolibrary.org/obo/DOID_0060539, http://purl.obolibrary.org/obo/NCIT_C150367, https://omim.org/entry/203300

has exact synonym

Hermansky-Pudlak syndrome caused by mutation in HPS1, Hermansky-Pudlak syndrome type 1, Hermansky-Pudlak syndrome 1, HPS1 Hermansky-Pudlak syndrome

has related synonym

HPS1, Delta storage pool disease, albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

id

MONDO:0008748