| Identifier type | ID/value | Label/name used | Source (paper, year) | URL / DOI | Notes / ambiguities |
|---|---|---|---|---|---|
| OMIM (reported in nomenclature table) | 606973 | COG1-CDG (CDG-IIg); defective protein: Component of conserved oligomeric Golgi complex 1 | Jaeken et al., 2009 (pqac-00000005) | https://doi.org/10.1016/j.bbadis.2009.08.005 | Reported in a CDG nomenclature table; excerpt does not provide Orphanet, MONDO, or ICD identifiers. |
| OMIM (reported in review table) | 611209 | COG1 deficiency; COG1-CDG (CDG-IIg) | Wolfe & Krasnewich, 2013 (pqac-00000006) | https://doi.org/10.1002/ddrr.1115 | Differs from OMIM 606973 reported by Jaeken et al. 2009; likely reflects table-level inconsistency or different entity mapping (gene vs disease), so should be verified against OMIM directly before KB ingestion. |
| Disease synonym | — | COG1-congenital disorders of glycosylation | Salazar et al., 2021 (pqac-00000009) | https://doi.org/10.1111/cge.13980 | Modern gene-based disease naming used in Clinical Genetics. |
| Disease synonym | — | COG1-CDG | Salazar et al., 2021 (pqac-00000009) | https://doi.org/10.1111/cge.13980 | Common short-form current nomenclature. |
| Historical CDG subtype name | — | CDG-IIg | Wolfe & Krasnewich, 2013; Huang et al., 2021 (pqac-00000006, pqac-00000008) | https://doi.org/10.1002/ddrr.1115; https://doi.org/10.1186/s12887-021-02922-7 | Historical subtype designation still used in reviews/case reports; often paired with COG1-CDG. |
| Historical proposed disease name | — | CDG-II Cog1 | Foulquier et al., 2006 (pqac-00000007) | https://doi.org/10.1073/pnas.0507685103 | Original proposed naming in the first disease report: “We propose naming this disorder CDG-II Cog1”. |
| Disease description / synonym | — | CDG-II caused by Cog1 deficiency | Foulquier et al., 2006 (pqac-00000007) | https://doi.org/10.1073/pnas.0507685103 | Original descriptive phrase from the discovery paper. |
| Disease synonym | — | Conserved oligomeric Golgi complex subunit 1 deficiency | Foulquier et al., 2006 (pqac-00000007) | https://doi.org/10.1073/pnas.0507685103 | Title-based descriptive synonym from first report. |
| Disease synonym | — | COG1 deficiency | Wolfe & Krasnewich, 2013; Huang et al., 2021 (pqac-00000006, pqac-00000008) | https://doi.org/10.1002/ddrr.1115; https://doi.org/10.1186/s12887-021-02922-7 | Concise disease label frequently used in reviews and case literature. |
| Disease synonym | — | Component of oligomeric Golgi complex 1 deficiency | Huang et al., 2021 (pqac-00000008) | https://doi.org/10.1186/s12887-021-02922-7 | Modern article title wording; omits “conserved” but clearly refers to COG1-related deficiency. |
| Defective protein / gene product description | — | Component of conserved oligomeric Golgi complex 1 | Jaeken et al., 2009 (pqac-00000005) | https://doi.org/10.1016/j.bbadis.2009.08.005 | Useful as a normalized protein-level description rather than a disease name. |
| Identifier availability in gathered evidence | Not reported | Orphanet / MONDO / ICD-10 / ICD-11 / MeSH | No supporting identifier in gathered evidence (pqac-00000005, pqac-00000006, pqac-00000007, pqac-00000008, pqac-00000009) | — | These identifiers were not present in the extracted evidence and should be looked up separately in authoritative databases rather than inferred. |


*Table: This table summarizes the key disease names, subtype labels, and reported OMIM identifiers for COG1-congenital disorder of glycosylation based only on gathered evidence. It also highlights an important OMIM-number discrepancy that should be reconciled before database entry.*