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Hermansky-Pudlak syndrome 1

Go to external page 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 ]

Synonyms: Hermansky-Pudlak syndrome type 1 Hermansky-Pudlak syndrome caused by mutation in HPS1 Hermansky-Pudlak syndrome 1 HPS1 Hermansky-Pudlak syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18331 (OMIM:203300)
  • NCIT:C150367 (MONDO:equivalentTo)
  • MESH:C538539 (MONDO:equivalentTo)
  • UMLS:C2931875 (OMIM:203300)
  • DOID:0060539 (MONDO:equivalentTo)
  • OMIM:203300 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, clingen

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 related synonym

HPS1

Delta storage pool disease

albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

id

MONDO:0008748

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008748