OBO ID: DOID:0060546
Term Name: Hermansky-Pudlak syndrome 8 Search Ontology:
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. http://omim.org/entry/614077
References:
Ontology: Human Disease   (DOID:0060546)
OTHER Hermansky-Pudlak syndrome 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BLOC1S3 Hermansky-Pudlak syndrome 8 614077
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None