OBO ID: DOID:3753
Term Name: Hermansky-Pudlak syndrome Search Ontology:
Synonyms:
Definition: An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (3)
References:
  • CSP2005:0446-1413
  • GARD:6643
  • ICD10CM:E70.331
  • MESH:D022861
  • NCI:C37261
  • ORDO:231531
  • ORDO:231537
  • ORDO:280663
  • ORDO:79430
  • SNOMEDCT_US_2018_03_01:60255003
  • SNOMEDCT_US_2018_03_01:9311003
  • UMLS_CUI:C0079504
Ontology: Human Disease   (DOID:3753)
Relationships
is a type of:
has subtype:
OTHER Hermansky-Pudlak syndrome PAGES
GENES INVOLVEDNo data available
PHENOTYPE No data available

CITATIONS (4)