OBO ID: DOID:0060540
Term Name: Hermansky-Pudlak syndrome 2 Search Ontology:
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. http://omim.org/entry/608233
References:
Ontology: Human Disease   (DOID:0060540)
OTHER Hermansky-Pudlak syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP3B1 Hermansky-Pudlak syndrome 2 608233
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None