| Metadata | |
|---|---|
| ID | DOID:0060641 |
| Name | endocrine-cerebro-osteodysplasia syndrome |
| Definition | A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. https://www.ncbi.nlm.nih.gov/pubmed/19185282, https://www.ncbi.nlm.nih.gov/pubmed/24853502 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ECO syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |