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endocrine-cerebro-osteodysplasia syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Uniprot Description Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
Disease Ontology Description 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).
Mondo Term and Equivalent IDs
MONDO:0012980:  endocrine-cerebro-osteodysplasia syndrome
MESH:C567210: 
Orphanet:199332: 
SCTID:723309006: 
UMLS:C2675227: 
UMLS:C4509819: