Hermansky-Pudlak syndrome 3

Hermansky-Pudlak syndrome 3

http://purl.obolibrary.org/obo/MONDO_0013555

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Hermansky-Pudlak syndrome type 3 HPS3 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome caused by mutation in HPS3 Hermansky-Pudlak syndrome 3

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

DOID:0060541 (MONDO:equivalentTo)
UMLS:C3888001 (MONDO:ncbi_mim2gene_medline)
OMIM:614072 (MONDO:equivalentTo)
GARD:18333 (OMIM:614072)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3888001

https://omim.org/entry/614072

http://purl.obolibrary.org/obo/DOID_0060541

has related synonym

HPS3

MONDO:0013555

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013555

Term relations

Subclass of:

Hermansky-Pudlak syndrome without pulmonary fibrosis