Metadata | |
---|---|
ID | DOID:3753 |
Name | Hermansky-Pudlak syndrome |
Definition | A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract, http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome |
Xrefs |
SNOMEDCT_US_2023_03_01:60255003 |
Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |