Glucose-6-Phosphatase 3 Deficiency

Preferred Label : Glucose-6-Phosphatase 3 Deficiency;

NCIt synonyms : G6PC3 Deficiency; Glucose-6-phosphatase Catalytic Subunit 3 Deficiency;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the G6PC3 gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphatase 3. Patients may develop severe congenital neutropenia.;

NCI Metathesaurus CUI : CL1662091;

Details

Origin ID

C179570;

UMLS CUI

C5552921;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_mapped_to_gene
- G6PC3 Gene [NCIt concept]
related_to_genetic_biomarker
- G6PC3 Gene [NCIt concept]

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