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Hermansky-Pudlak syndrome with pulmonary fibrosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0016501

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. [ Orphanet:231500 ]

Synonyms: HPS with pulmonary fibrosis

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17168 (Orphanet:231500)
  • ICD10CM:E70.3 (Orphanet:231500/ntbt)
  • Orphanet:231500 (MONDO:equivalentTo)
  • UMLS:CN201506 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_231500

http://linkedlifedata.com/resource/umls/id/CN201506

id

MONDO:0016501