OBO ID: DOID:0060539
Term Name: Hermansky-Pudlak syndrome 1 Search Ontology:
Synonyms:
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. http://omim.org/entry/203300
References:
Ontology: Human Disease   (DOID:0060539)
OTHER Hermansky-Pudlak syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPS1 Hermansky-Pudlak syndrome 1 203300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None