Cockayne syndrome type 1
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8
Press Enter · cited answer in seconds
0 sources
Cockayne syndrome type 1
Summary
Cockayne syndrome type 1 is a class of disease[1].
Key Facts
- Cockayne syndrome type 1's instance of is recorded as class of disease[2].
- Cockayne syndrome type 1's subclass of is recorded as Cockayne syndrome[3].
- Cockayne syndrome type 1's OMIM ID is recorded as 216400[4].
- Cockayne syndrome type 1's Orphanet ID is recorded as 90321[5].
- Cockayne syndrome type 1's NCI Thesaurus ID is recorded as C135725[6].
- Cockayne syndrome type 1's genetic association is recorded as ERCC8[7].
- Cockayne syndrome type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_191[8].
- Cockayne syndrome type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90321[9].
- Cockayne syndrome type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90322[10].
- Cockayne syndrome type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90324[11].
- Cockayne syndrome type 1's UMLS CUI is recorded as C0751039[12].
- Cockayne syndrome type 1's ICD-10-CM is recorded as Q87.8[13].
- Cockayne syndrome type 1's GARD rare disease ID is recorded as 1415[14].
- Cockayne syndrome type 1's Mondo ID is recorded as MONDO_0019569[15].
- Cockayne syndrome type 1's ICD-11 ID is recorded as 1271368066[16].
- Cockayne syndrome type 1's UniProt disease ID is recorded as DI-00311[17].