loading...| Preferred Name | COFS syndrome | |
| Synonyms |
COFS Pena-Shokeir syndrome type 2 cerebrooculofacioskeletal syndrome cerebro-oculo-facio-skeletal syndrome |
|
| Definitions |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008926 |
|
| altLabel |
COFS Pena-Shokeir syndrome type 2 cerebrooculofacioskeletal syndrome cerebro-oculo-facio-skeletal syndrome |
|
| definition |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
|
| has_exact_synonym |
COFS Pena-Shokeir syndrome type 2 cerebrooculofacioskeletal syndrome cerebro-oculo-facio-skeletal syndrome |
|
| label |
COFS syndrome |
|
| prefixIRI |
MONDO:0008926 |
|
| prefLabel |
COFS syndrome |
|
| textual definition |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016073 http://purl.obolibrary.org/obo/MONDO_0021190 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0008926 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008926 | MONDO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_1649 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_6685 | CLO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008926 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008926 | MONDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_1466 | ORDO | LOOM |