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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).
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060641
MESH:C567210
OMIM:612651
Orphanet:199332
SCTID:723309006
UMLS:C2675227
UMLS:C4509819
MONDO:0012980
High level summary of knowledge for a disease, including descriptions and datasource references.