OFD1 wt Allele

Preferred Label : OFD1 wt Allele;

NCIt synonyms : MGC117040; MGC117039; CXorf5; SGBS2; Oral-Facial-Digital Syndrome 1 wt Allele; 71-7A; Chromosome X Open Reading Frame 5 Gene; JBTS10; Retinitis Pigmentosa 23 (X-Linked Recessive) Gene;

NCIt definition : Human OFD1 wild-type allele is located in the vicinity of Xp22 and is approximately 35 kb in length. This allele, which encodes oral-facial-digital syndrome 1, may be involved in the mediation of embryonic development. Mutations in the gene are associated with both oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2.;

NCIt note : Several OFD1 pseudogenes are in the human genome, one is located on chromosome 5 and at least sixteen have been found in a cluster on the Y chromosome in the vicinity of Yp11. (Entrez Gene and HUGO);

GenBank Accession Number : Y15164;

Details

Origin ID

C75880;

UMLS CUI

C2698641;

OMIM relation
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
See also inter- (CISMeF)
- Joubert syndrome 10 [DO Concept]
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_in_chromosomal_location
- Xp22 [NCIt concept]

Keyword's position in hierarchy(ies) :

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