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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 (ICK).
Synonyms: ECO syndrome,
Echinobase Genes :
MIM:612651 - endocrine-cerebroosteodysplasia; eco |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)