Endocrine-Cerebro-Osteodysplasia Syndrome
Disease ID: disease_node_20325
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q87.8, MIM:612651, ORDO:199332 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | ECO syndrome |
| Doid Label | endocrine-cerebro-osteodysplasia syndrome |
| Doid 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20325 |
| Doid Id | DOID_0060641 |
| Label | Endocrine-Cerebro-Osteodysplasia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)