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endocrine-cerebro-osteodysplasia syndrome (DOID:0060641)
Alliance: disease page
Synonyms: ECO syndrome
Alt IDs: OMIM:612651, ICD10CM:Q87.8, ORDO:199332
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).

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory