Aniridia 2 - CISMeF

Preferred Label : Aniridia 2;

Symbol : AN2;

CISMeF acronym : AN2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in a cis-acting PAX6 regulatory element located in an intron of the adjacent elongator acetyltransferase complex, subunit-4 gene (ELP4, 606985.0001);

Prefixed ID : #617141;

Details

Origin ID

617141;

UMLS CUI

C0344543;

Automatic exact mappings (from CISMeF team)
- Aniridia type 2 (disorder) [SNOMED CT concept]
- PAX6 wt Allele [NCIt concept]
- aniridia, type 2 [MeSH Supplementary Concept]
- aniridia, type 2 [MeSH concept]
- paired box 6 [HGNC gene]
- symbol withdrawn AN2 [HGNC gene]
Genes related to phenotype
- Elongator acetyltransferase complex, subunit 4 [OMIM gene]
HPO term(s)
- Aniridia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
ORDO concept(s)
- Isolated aniridia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Aniridia type 2 (disorder) [SNOMED CT concept]
- aniridia, type 2 [MeSH concept]
- aniridia, type 2 [MeSH Supplementary Concept]

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