Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Disease ID: disease_node_20297
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| Dbxref | MIM:618929 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Doid Label | agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
| Doid Description | A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. |
| Disease Node Id | disease_node_20297 |
| Doid Id | DOID_0080948 |
| Label | Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)