Anterior segment dysgenesis 2

Preferred Label : Anterior segment dysgenesis 2;

Symbol : ASGD2;

CISMeF acronym : ASGD2; CPA; CPAK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPAK; Aphakia, congenital primary; CPA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the forkhead box E3 gene (FOXE3, 601094.0001);

Prefixed ID : #610256;

Details

Origin ID

610256;

UMLS CUI

C1853230;

Automatic exact mappings (from CISMeF team)
- CPA1 wt Allele [NCIt concept]
- Human platelets, apheresis (product) [SNOMED CT concept]
- anterior segment dysgenesis 2 [DO Concept]
- antigen-presenting cells [MeSH Descriptor]
- congenital aphakia [DO Concept]
- pulmonary heart disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Aphakia, congenital primary [MeSH concept]
- Congenital aphakia [HPO term]
- Congenital primary aphakia [ORDO Disease]
- aphakia, congenital primary [MeSH Supplementary Concept]
- congenital primary aphakia [Disease (Nov.)]
DO Cross reference
- anterior segment dysgenesis 2 [DO Concept]
- congenital aphakia [DO Concept]
Genes related to phenotype
- Forkhead box e3 [OMIM gene]
HPO term(s)
- Aniridia [HPO term]
- Anterior segment mesencyhmal dysgenesis [HPO term]
- Anterior segment of eye aplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Coloboma [HPO term]
- Congenital aphakia [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Ocular hypertension [HPO term]
- Peters anomaly [HPO term]
- Posterior synechiae of the anterior chamber [HPO term]
- Sclerocornea [HPO term]
ORDO concept(s)
- Congenital primary aphakia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Aphakia, congenital primary [MeSH concept]
- Congenital aphakia [HPO term]
- Congenital primary aphakia [ORDO Disease]
- aphakia, congenital primary [MeSH Supplementary Concept]

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