Jump to:
loading...| Preferred Name |
Cornelia de Lange syndrome 2 |
|
| Synonyms |
|
|
| Definitions |
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080506 |
|
| database_cross_reference |
OMIM:300590 |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080506 |
|
| label |
Cornelia de Lange syndrome 2 |
|
| notation |
DOID:0080506 |
|
| prefLabel |
Cornelia de Lange syndrome 2 |
|
| textual definition |
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. |
|
| subClassOf |
Create mapping