loading...| Preferred Name | cerebrooculofacioskeletal syndrome 2 | |
| Synonyms |
COFS syndrome caused by mutation in ERCC2 cerebrooculofacioskeletal syndrome 2 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome type 2 COFS2 |
|
| Definitions |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0012553 |
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| database_cross_reference |
MEDGEN:342799 UMLS:C1853102 OMIM:610756 DOID:0080912 MESH:C565185 GARD:15497 |
|
| definition |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. |
|
| has_exact_synonym |
COFS syndrome caused by mutation in ERCC2 cerebrooculofacioskeletal syndrome 2 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome type 2 COFS2 |
|
| id |
MONDO:0012553 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
cerebrooculofacioskeletal syndrome 2 |
|
| notation |
MONDO:0012553 |
|
| preferred label |
cerebrooculofacioskeletal syndrome 2 |
|
| prefLabel |
cerebrooculofacioskeletal syndrome 2 |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0080912 http://identifiers.org/medgen/342799 http://identifiers.org/mesh/C565185 |
|
| subClassOf |