OBO ID: DOID:3753 |
Term Name: | Hermansky-Pudlak syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (3) | ||
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Ontology: | Human Disease ( DOID:3753 ) |
OTHER Hermansky-Pudlak syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
PHENOTYPE
No data available
CITATIONS (6)
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