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Hermansky-Pudlak syndrome 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0011997

A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. [ Orphanet:183678 ]

Synonyms: HPS2 Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak syndrome caused by mutation in AP3B1 Hermansky-Pudlak syndrome 2 HPS-2 AP3B1 Hermansky-Pudlak syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:9435 (OMIM:608233)
  • NCIT:C150368 (MONDO:equivalentTo)
  • UMLS:C1842362 (Orphanet:183678)
  • ICD10CM:E70.3 (Orphanet:183678/ntbt)
  • DOID:0060540 (MONDO:equivalentTo)
  • Orphanet:183678 (OMIM:608233)
  • MESH:C537709 (MONDO:equivalentTo)
  • OMIM:608233 (Orphanet:183678/e)
  • GARD:15026 (Orphanet:183678)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/entry/608233

http://www.orpha.net/ORDO/Orphanet_183678

http://purl.obolibrary.org/obo/DOID_0060540

http://identifiers.org/mesh/C537709

http://purl.obolibrary.org/obo/NCIT_C150368

http://linkedlifedata.com/resource/umls/id/C1842362

has related synonym

Hermansky-Pudlak syndrome with neutropenia

Platelet defects and oculocutaneous albinism

Hermansky Pudlak syndrome 2

id

MONDO:0011997

seeAlso

https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2

https://search.clinicalgenome.org/kb/conditions/MONDO:0011997