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Hermansky-Pudlak syndrome 9

Go to external page http://purl.obolibrary.org/obo/MONDO_0013606

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome caused by mutation in BLOC1S6 Hermansky-Pudlak syndrome 9 BLOC1S6 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 9 HPS9

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:280663 (OMIM:614171)
  • GARD:18338 (OMIM:614171)
  • OMIM:614171 (Orphanet:280663/e)
  • ICD10CM:E70.3 (Orphanet:280663/ntbt)
  • DOID:0060547 (MONDO:equivalentTo)
  • UMLS:C3280026 (OMIM:614171)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3280026

http://purl.obolibrary.org/obo/DOID_0060547

https://omim.org/entry/614171

id

MONDO:0013606

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013606