|
DOID:0060545 - Hermansky-Pudlak syndrome 7
Disease Ontology Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Synonyms:
Xenbase Genes : dtnbp1
MONDO:0013559 - Hermansky-Pudlak syndrome 7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Hermansky-Pudlak syndrome (is_a)