FOXP3 wt Allele

Preferred Label : FOXP3 wt Allele;

NCIt synonyms : DIETER; Forkhead Box P3 wt Allele; AIID; PIDX; JM2; IPEX; XPID; SCURFIN;

NCIt definition : Human FOXP3 wild-type allele is located in the vicinity of Xp11.23 and is approximately 14 kb in length. This allele, which encodes forkhead box protein P3, plays a role in transcription regulation and the immune response. Mutations in this gene are associated with immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).;

GenBank Accession Number : NM_014009;

Details

Origin ID

C104395;

UMLS CUI

C3539774;

Automatic exact mappings (from CISMeF team)
- Forkhead box p3 [OMIM gene]
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [ORDO Disease]
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [OMIM Phenotype]
- X-linked immune dysregulation – polyendocrinopathy – enteropathy [ICD-11 More detail]
- forkhead box P3 [ORDO Gene]
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]
OMIM relation
- Forkhead box p3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients