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Glucose-6-Phosphate Dehydrogenase Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C98933

An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. [ ]

Term info

Label

Glucose-6-Phosphate Dehydrogenase Deficiency

Synonyms
  • G-6-PD Variant Enzyme Deficiency Anemia
  • G6PD
  • G6PD Deficiency
  • Glucose-6-Phosphate Dehydrogenase Deficiency
Subsets

NCIT_C99147, NCIT_C90259, NCIT_C158035, NCIT_C158520, NCIT_C132009, NCIT_C156952, NCIT_C116977, NCIT_C142800, NCIT_C142799

ALT DEFINITION

An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances.

Contributing Source

CTRP, NICHD, CPTAC

Display Name

Glucose-6-Phosphate Dehydrogenase Deficiency

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C131630, http://purl.obolibrary.org/obo/NCIT_C34384, http://purl.obolibrary.org/obo/NCIT_C3492

NICHD Hierarchy Term

Glucose-6-Phosphate Dehydrogenase Deficiency

Preferred Name

Glucose-6-Phosphate Dehydrogenase Deficiency

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C26529

Semantic Type

Disease or Syndrome

UMLS CUI

C2939465

code

C98933