loading...| Preferred Name |
cerebrooculofacioskeletal syndrome 1 |
|
| Synonyms |
Pena-Shokeir syndrome, type 2 COFS syndrome ERCC6 COFS syndrome COFS1 cerebrooculofacioskeletal syndrome 1 COFS syndrome caused by mutation in ERCC6 cerebrooculofacioskeletal syndrome type 1 |
|
| Definitions |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008955 |
|
| altLabel |
Pena-Shokeir syndrome, type 2 COFS syndrome ERCC6 COFS syndrome COFS1 cerebrooculofacioskeletal syndrome 1 COFS syndrome caused by mutation in ERCC6 cerebrooculofacioskeletal syndrome type 1 |
|
| definition |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. |
|
| has_broad_synonym |
COFS syndrome |
|
| has_exact_synonym |
ERCC6 COFS syndrome COFS1 cerebrooculofacioskeletal syndrome 1 COFS syndrome caused by mutation in ERCC6 cerebrooculofacioskeletal syndrome type 1 |
|
| has_related_synonym |
Pena-Shokeir syndrome, type 2 |
|
| label |
cerebrooculofacioskeletal syndrome 1 |
|
| prefixIRI |
MONDO:0008955 |
|
| prefLabel |
cerebrooculofacioskeletal syndrome 1 |
|
| textual definition |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. |
|
| subClassOf |