| Metadata | |
|---|---|
| ID | DOID:0110231 |
| Name | cataract 1 multiple types |
| Definition | A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/9497259 |
| Xrefs | |
| Synonyms |
CAE1 [NARROW] cataract 1, multiple types, with or without microcornea [EXACT] CTRCT1 [EXACT] CZP1 [NARROW] Duffy linked cataract [EXACT] zonular pulverulent cataract 1 [NARROW] |
| Parent Relationships |
is_a autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |