A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. [ url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 ]
Term information
- SNOMEDCT_US_2023_03_01:60255003
- MESH:D022861
- ORDO:280663
- NCI:C37261
- ICD10CM:E70.331
- MIM:PS203300
- ORDO:79430
- ORDO:231531
- UMLS_CUI:C0079504
- ORDO:231537
- GARD:6643
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
Term relations
- autosomal recessive disease
- syndrome
- has material basis in some autosomal recessive inheritance
- has symptom some bleeding