NR0B1 wt Allele

Preferred Label : NR0B1 wt Allele;

NCIt synonyms : NROB1; AHX; HHG; DAX-1; AHCH; Nuclear Receptor Subfamily 0, Group B, Member 1 wt Allele; Dosage-Sensitive Sex Reversal Gene; AHC; GTD; DSS; DAX1; SRXY22;

NCIt definition : Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal.;

GenBank Accession Number : S74720;

Details

Origin ID

C75865;

UMLS CUI

C2698419;

Automatic exact mappings (from CISMeF team)
- 46,XY sex reversal 2 [DO Concept]
- Acute epidemic haemorrhagic conjunctivitis [ICD-11 Subcategory]
- Adrenal hypoplasia congenita [ORDO Disease]
- Adrenal hypoplasia, congenital [OMIM Phenotype]
- Alternating hemiplegia of childhood [ORDO Disease]
- Dengue shock syndrome (disorder) [SNOMED CT concept]
- Disorganization, mouse, homolog of [OMIM Phenotype]
- Disproportionate short stature (disorder) [SNOMED CT concept]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- Nuclear receptor subfamily 0, group b, member 1 [OMIM gene]
- alternating hemiplegia of childhood [DO Concept]
- anterior hypothalamic commissure [UBERON concept]
- dengue shock syndrome [DO Concept]
- nuclear receptor subfamily 0 group B member 1 [ORDO Gene]
OMIM relation
- Nuclear receptor subfamily 0, group b, member 1 [OMIM gene]
See also inter- (CISMeF)
- 46,xy sex reversal 2 [OMIM Phenotype]
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
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Organogenesis [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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