loading...| Preferred Name |
cerebrooculofacioskeletal syndrome 1 |
|
| Synonyms |
Pena-Shokeir syndrome, type 2 COFS syndrome COFS syndrome caused by mutation in ERCC6 cerebrooculofacioskeletal syndrome 1 ERCC6 COFS syndrome cerebrooculofacioskeletal syndrome type 1 COFS1 |
|
| 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 |
|
| database_cross_reference |
DOID:0080911 UMLS:C0220722 OMIM:214150 NCIT:C173085 GARD:15150 |
|
| definition |
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C173085 |
|
| has_broad_synonym |
COFS syndrome |
|
| has_exact_synonym |
COFS syndrome caused by mutation in ERCC6 cerebrooculofacioskeletal syndrome 1 ERCC6 COFS syndrome cerebrooculofacioskeletal syndrome type 1 COFS1 |
|
| has_related_synonym |
Pena-Shokeir syndrome, type 2 |
|
| id |
MONDO:0008955 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
cerebrooculofacioskeletal syndrome 1 |
|
| notation |
MONDO:0008955 |
|
| preferred label |
cerebrooculofacioskeletal syndrome 1 |
|
| prefLabel |
cerebrooculofacioskeletal syndrome 1 |
|
| subClassOf |