| Metadata | |
|---|---|
| ID | DOID:0060356 |
| Name | Vici syndrome |
| Definition | A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. https://en.wikipedia.org/wiki/Vici_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/21965116, https://www.ncbi.nlm.nih.gov/pubmed/23222957 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719824001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [EXACT] |
| Parent Relationships |
is_a syndrome |