Search Ontology:
Human Disease

paroxysmal nocturnal hemoglobinuria

Term ID
DOID:0060284
Synonyms
Definition
An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria
References
  • GARD:7337
  • ICD10CM:D59.5
  • ICD10CM:D59.6
  • MESH:D006457
  • NCI:C61233
  • OMIM:300818
  • OMIM:615399
  • ORDO:447
  • SNOMEDCT_US_2023_03_01:1468004
  • SNOMEDCT_US_2023_03_01:154805009
  • SNOMEDCT_US_2023_03_01:191226006
  • UMLS_CUI:C0019050
  • UMLS_CUI:C0024790
  • UMLS_CUI:C0086774
Ontology
Human Disease   ( DOID:0060284 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations