Dual Oxidase 2 Deficiency

Preferred Label : Dual Oxidase 2 Deficiency;

Alternative definition : NICHD: Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2.;

Details

Origin ID

C121748;

UMLS CUI

C4055115;

Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]
disease_mapped_to_gene
- DUOX2 Gene [NCIt concept]

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