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Hermansky-Pudlak syndrome

^ http://purl.obolibrary.org/obo/MONDO_0019312

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 ]

Term info

database cross reference
  • MESH:D022861 (MONDO:equivalentTo)
  • OMIMPS:203300 (MONDO:equivalentTo)
  • Orphanet:79430 (MONDO:equivalentTo)
  • NCIT:C37261 (MONDO:equivalentTo)
  • GARD:0006643 (MONDO:equivalentTo)
  • ICD10CM:E70.3 (Orphanet:79430/ntbt)
  • ICD10CM:E70.331 (MONDO:equivalentTo)
  • SCTID:9311003 (MONDO:equivalentTo)
  • MedDRA:10071775 (Orphanet:79430/e)
  • DOID:3753 (MONDO:equivalentTo)
  • ICD9:270.2 (MONDO:relatedTo)
Subsets

ordo_disease

abbreviation
HPS [ Orphanet:79430 ]

closeMatch

http://identifiers.org/meddra/10071775

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

https://omim.org/phenotypicSeries/PS203300, http://purl.obolibrary.org/obo/NCIT_C37261, http://identifiers.org/snomedct/9311003, http://purl.obolibrary.org/obo/Orphanet_79430, http://purl.obolibrary.org/obo/DOID_3753, http://identifiers.org/mesh/D022861, http://purl.bioontology.org/ontology/ICD10CM/E70.331

has exact synonym

HPS (Hermansky Pudlak syndrome), HPS

has related synonym

Hermansky Pudlak syndrome

id

MONDO:0019312