Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. [ Orphanet:79430 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E70.3 (Orphanet:79430)
  • MESH:D022861 (MONDO:equivalentTo)
  • OMIMPS:203300 (MONDO:equivalentTo)
  • MedDRA:10071775 (Orphanet:79430)
  • SCTID:9311003 (MONDO:equivalentTo)
  • GARD:0006643 (Orphanet-shared)
  • Orphanet:79430 (MONDO:equivalentTo)
  • NCIT:C37261 (MONDO:equivalentTo)
  • DOID:3753 (MONDO:equivalentTo)
  • ICD9:270.2 (i2s)
  • ICD10:E70.331 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
HPS [ Orphanet:79430 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0079504

http://identifiers.org/snomedct/190697008

http://identifiers.org/snomedct/60255003

definition

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C37261

http://identifiers.org/snomedct/9311003

http://purl.obolibrary.org/obo/DOID_3753

http://identifiers.org/mesh/D022861

http://identifiers.org/meddra/10071775

http://www.orpha.net/ORDO/Orphanet_79430

has exact synonym

HPS (Hermansky Pudlak syndrome)

HPS

has related synonym

Hermansky Pudlak syndrome

id

MONDO:0019312

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml