OBO ID: DOID:3753
Term Name: Hermansky-Pudlak syndrome Search Ontology:
Synonyms:
Definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (3)
References:
  • GARD:6643
  • ICD10CM:E70.331
  • MESH:D022861
  • NCI:C37261
  • OMIM:PS203300
  • ORDO:231531
  • ORDO:231537
  • ORDO:280663
  • ORDO:79430
  • SNOMEDCT_US_2019_09_01:9311003
  • UMLS_CUI:C0079504
Ontology: Human Disease   (DOID:3753)
OTHER Hermansky-Pudlak syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (4)