Jump to:
loading...| Preferred Name |
cerebrooculofacioskeletal syndrome 1 |
|
| Synonyms |
|
|
| Definitions |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080911 |
|
| database_cross_reference |
OMIM:214150 |
|
| definition |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080911 |
|
| label |
cerebrooculofacioskeletal syndrome 1 |
|
| notation |
DOID:0080911 |
|
| note |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
|
| preferred label |
cerebrooculofacioskeletal syndrome 1 |
|
| prefLabel |
cerebrooculofacioskeletal syndrome 1 |
|
| subClassOf |
Create mapping