DHH wt Allele - CISMeF

Preferred Label : DHH wt Allele;

NCIt synonyms : HHG-3; GDXYM; SRXY7; Desert Hedgehog wt Allele; MGC35145;

NCIt definition : Human DHH wild-type allele is located in the vicinity of 12q13.12 and is approximately 5 kb in length. This allele, which encodes desert hedgehog protein, is involved in the regulation of both male gonadal differentiation and perineurial development. Mutations in this gene are associated with both 46XY partial gonadal dysgenesis, with minifascicular neuropathy, and 46XY sex reversal 7.;

GenBank Accession Number : NM_021044;

Details

Origin ID

C106443;

UMLS CUI

C3811698;

Automatic exact mappings (from CISMeF team)
- 46,XY sex reversal 7 [DO Concept]
- desert hedgehog signaling molecule [ORDO Gene]
OMIM relation
- Desert hedgehog signaling molecule [OMIM gene]
See also inter- (CISMeF)
- 46,xy sex reversal 7 [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
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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