| OBO ID: DOID:0060641 |
| Term Name: | endocrine-cerebro-osteodysplasia syndrome | Search Ontology: | |
|---|---|---|---|
| Synonyms: |
|
||
| 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. (2) | ||
| References: |
|
||
| Ontology: | Human Disease (DOID:0060641) |
Show first 5 Terms
