Cockayne syndrome type 2
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6
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Cockayne syndrome type 2
Summary
Cockayne syndrome type 2 is a class of disease[1].
Key Facts
- Cockayne syndrome type 2's instance of is recorded as class of disease[2].
- Cockayne syndrome type 2's subclass of is recorded as Cockayne syndrome[3].
- Cockayne syndrome type 2's OMIM ID is recorded as 133540[4].
- Cockayne syndrome type 2's Orphanet ID is recorded as 90322[5].
- Cockayne syndrome type 2's Orphanet ID is recorded as 191[6].
- Cockayne syndrome type 2's Orphanet ID is recorded as 90324[7].
- Cockayne syndrome type 2's Orphanet ID is recorded as 90321[8].
- Cockayne syndrome type 2's NCI Thesaurus ID is recorded as C135726[9].
- Cockayne syndrome type 2's genetic association is recorded as ERCC6[10].
- Cockayne syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_191[11].
- Cockayne syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90321[12].
- Cockayne syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90322[13].
- Cockayne syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90324[14].
- Cockayne syndrome type 2's UMLS CUI is recorded as C0751038[15].
- Cockayne syndrome type 2's ICD-10-CM is recorded as Q87.8[16].
- Cockayne syndrome type 2's Mondo ID is recorded as MONDO_0019570[17].
- Cockayne syndrome type 2's ICD-11 ID is recorded as 1604701958[18].
- Cockayne syndrome type 2's UniProt disease ID is recorded as DI-00312[19].