Disease: Anterior Segment Dysgenesis 2

Name Anterior Segment Dysgenesis 2

Synonyms APHAKIA, CONGENITAL PRIMARY; CPAK , CPA

Classification developmental, eye, genetic

Phenotypes Aniridia; Anterior segment of eye aplasia; Autosomal recessive inheritance; Cataract; Coloboma; Congenital aphakia; Microcornea; Microphthalmia; Nystagmus; Ocular hypertension; Peters anomaly; Posterior synechiae of the anterior chamber; Sclerocornea

Associated Genes FOXE3 (Withdrawn symbols: FKHL12, FREAC8 )

Mouse Orthologs Foxe3 (Withdrawn symbols: dyl, rct )

Source OMIM:610256 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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