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DOID:0060641 - endocrine-cerebro-osteodysplasia syndrome
Disease Ontology 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.
Synonyms: ECO syndrome
Xenbase Genes
:
cilk1
| MONDO:0012980 - endocrine-cerebro-osteodysplasia syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)