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Hermansky-Pudlak syndrome

Go to external page 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 ]

Synonyms: HPS (Hermansky Pudlak syndrome) HPS Hepatopulmonary Syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:6643 (MONDO:GARD)
  • NANDO:1200638 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:9311003 (MONDO:equivalentTo)
  • MedDRA:10071775 (Orphanet:79430/e)
  • ICD10CM:E70.3 (Orphanet:79430/ntbt)
  • ICD10CM:E70.331 (MONDO:equivalentTo)
  • UMLS:C0079504 (MONDO:equivalentTo)
  • MEDGEN:36313 (MONDO:equivalentTo)
  • NCIT:C37261 (MONDO:equivalentTo)
  • NORD:1918 (MONDO:NORD)
  • DOID:3753 (MONDO:equivalentTo)
  • OMIMPS:203300 (https://orcid.org/0000-0002-6601-2165)
  • ICD9:270.2 (MONDO:relatedTo)
  • Orphanet:79430 (MONDO:equivalentTo)
  • MESH:D022861 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

closeMatch

http://identifiers.org/meddra/10071775

exactMatch

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

https://omim.org/phenotypicSeries/PS203300

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

http://identifiers.org/snomedct/9311003

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

http://identifiers.org/medgen/36313

http://identifiers.org/mesh/D022861

http://purl.bioontology.org/ontology/ICD10CM/E70.331

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

has related synonym

Hermansky Pudlak syndrome

id

MONDO:0019312