| Metadata | |
|---|---|
| ID | DOID:0111274 |
| Name | CODAS syndrome |
| Definition | A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/25574826 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717772000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cerebral, ocular, dental, auricular, and skeletal syndrome [EXACT] cerebro-oculo-dento-auriculo-skeletal syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |