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Hermansky-Pudlak syndrome without pulmonary fibrosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0016502

Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. [ Orphanet:231512 ]

Synonyms: HPS without pulmonary fibrosis

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN201507 (MONDO:equivalentTo)
  • GARD:17169 (Orphanet:231512)
  • ICD10CM:E70.3 (Orphanet:231512/ntbt)
  • Orphanet:231512 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201507

http://www.orpha.net/ORDO/Orphanet_231512

id

MONDO:0016502

Term relations