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Hermansky-Pudlak syndrome 7

Go to external page http://purl.obolibrary.org/obo/MONDO_0013559

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome 7 DTNBP1 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome caused by mutation in DTNBP1 Hermansky-Pudlak syndrome type 7 HPS7

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:231531 (OMIM:614076)
  • OMIM:614076 (Orphanet:231531/e)
  • GARD:17170 (Orphanet:231531)
  • DOID:0060545 (MONDO:equivalentTo)
  • ICD10CM:E70.3 (Orphanet:231531/ntbt)
  • UMLS:C3279756 (OMIM:614076)
  • GARD:18336 (OMIM:614076)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0060545

http://www.orpha.net/ORDO/Orphanet_231531

http://linkedlifedata.com/resource/umls/id/C3279756

https://omim.org/entry/614076

id

MONDO:0013559

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013559

Term relations