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loading...| Preferred Name |
cerebrooculofacioskeletal syndrome 1 |
| 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 |
| prefLabel |
cerebrooculofacioskeletal syndrome 1 |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C562434 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/214150 | Online Mendelian Inheritance in Man | LOOM |