loading...| Preferred Name | cerebrooculofacioskeletal syndrome 2 | |
| Synonyms |
COFS syndrome caused by mutation in ERCC2 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome type 2 cerebrooculofacioskeletal syndrome 2 COFS2 |
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| Definitions |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012553 |
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| altLabel |
COFS syndrome caused by mutation in ERCC2 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome type 2 cerebrooculofacioskeletal syndrome 2 COFS2 |
|
| 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 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome type 2 cerebrooculofacioskeletal syndrome 2 COFS2 |
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| label |
cerebrooculofacioskeletal syndrome 2 |
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| prefixIRI |
MONDO:0012553 |
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| prefLabel |
cerebrooculofacioskeletal syndrome 2 |
|
| textual definition |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. |
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| subClassOf |