paired box 6 - CISMeF

Preferred Label : paired box 6;

Approved symbol HGNC : PAX6;

Name synonyms HGNC : Aniridia 1; keratitis; Aniridia 2; aniridia;

Alias symbols HGNC : D11S812E; AN; WAGR;

Chromosome HGNC : 11p13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000007372;

Details

Origin ID

HGNC:8620;

UMLS CUI

C1418276;

Automatic exact mappings (from CISMeF team)
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category]
- Aniridia [NCIt concept]
- Aniridia [ICD-9 code]
- Aniridia [MedDRA Preferred Term]
- Aniridia [PASCAL descriptor]
- Aniridia [ICD-11 Subcategory]
- Aniridia [HPO term]
- Aniridia [OMIM phenotypic series]
- Aniridia 1 [OMIM Phenotype]
- Aniridia 2 [OMIM Phenotype]
- Blood group--ahonen [OMIM Phenotype]
- Congenital aniridia (disorder) [SNOMED CT concept]
- KERATITIS [WHO-ART High Level Term]
- Keratitis [ICD-9 code]
- Keratitis [NCIt concept]
- Keratitis [MedDRA Preferred Term]
- Keratitis [ICD-10 category]
- Keratitis [PASCAL descriptor]
- Keratitis [HPO term]
- Keratitis (disorder) [SNOMED CT concept]
- Keratitis, CTCAE [NCIt concept]
- Keratocyte Count [NCIt concept]
- Paired box gene 6 [OMIM gene]
- Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome [OMIM Phenotype]
- aniridia [SNOMED Notion]
- aniridia [DO Concept]
- aniridia [MeSH concept]
- aniridia [MeSH Descriptor]
- keratitis [MeSH Descriptor]
- keratitis [MeSH concept]
- keratitis [DO Concept]
- paired box 6 [ORDO Gene]
NCIt concept
- PAX6 Gene [NCIt concept]
OMIM gene
- Paired box gene 6 [OMIM gene]
Orphanet gene
- paired box 6 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PAX6 Gene [NCIt concept]
- PAX6 gene [LOINC component]
- Paired box gene 6 [OMIM gene]

Keyword's position in hierarchy(ies) :

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