Hermansky-Pudlak syndrome 4

Hermansky-Pudlak syndrome 4

http://purl.obolibrary.org/obo/MONDO_0013556

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome type 4 HPS4 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome caused by mutation in HPS4 Hermansky-Pudlak syndrome 4

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This is just here as a test because I lose it

Term information

database cross reference

GARD:18332 (OMIM:614073)
OMIM:614073 (MONDO:equivalentTo)
UMLS:C3484357 (OMIM:614073)
DOID:0060542 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0060542

https://omim.org/entry/614073

http://linkedlifedata.com/resource/umls/id/C3484357

has related synonym

HPS4

MONDO:0013556

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013556

Term relations

Subclass of:

Hermansky-Pudlak syndrome with pulmonary fibrosis