Term Name: | endocrine-cerebro-osteodysplasia syndrome |
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Synonyms: | ECO 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. |
Ontology: | Human Disease [DOID:0060641] ( DOID:0060641 ) |