loading...| Preferred Name |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080948 |
| database_cross_reference |
OMIM:618929 |
| definition |
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. |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080948 |
| label |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
| notation |
DOID:0080948 |
| prefLabel |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
| subClassOf |