| Metadata | |
|---|---|
| ID | DOID:0070353 |
| Name | cataract 47 |
| Definition | A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. https://www.omim.org/entry/612018 |
| Xrefs | |
| Synonyms |
CTRCT47 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |