OBO ID: DOID:0060284
Term Name: paroxysmal nocturnal hemoglobinuria Search Ontology:
Synonyms:
Definition: An aquired 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_2022_03_01:1468004
  • SNOMEDCT_US_2022_03_01:154805009
  • SNOMEDCT_US_2022_03_01:191226006
  • UMLS_CUI:C0019050
  • UMLS_CUI:C0024790
  • UMLS_CUI:C0086774
Ontology: Human Disease   (DOID:0060284)
Relationships
is a type of:
OTHER paroxysmal nocturnal hemoglobinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGA Paroxysmal nocturnal hemoglobinuria, somatic 300818
PIGT ?Paroxysmal nocturnal hemoglobinuria 2 615399
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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