| Metadata | |
|---|---|
| ID | DOID:0070354 |
| Name | cataract 48 |
| Definition | A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. https://www.ncbi.nlm.nih.gov/pubmed/30290152, https://www.omim.org/entry/618415 |
| Xrefs | |
| Synonyms |
CTRCT48 [EXACT] |
| Parent Relationships |
is_a cataract |