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/24853502, https://www.ncbi.nlm.nih.gov/pubmed/19185282 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ECO syndrome [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |