| Metadata | |
|---|---|
| ID | DOID:0080607 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080607 Copy |
| Name | anterior segment dysgenesis 2 |
| Definition | An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. https://www.ncbi.nlm.nih.gov/pubmed/21150893 |
| Xrefs | |
| Alternateids |
DOID:11367 |
| Subsets |
NCIthesaurus |
| Synonyms |
ASGD2 [EXACT] congenital absence of lens [EXACT] congenital aphakia [EXACT] congenital primary aphakia [EXACT] CPAK [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |