| Deliverable | What it contains | How to use it to complete the EDN3/EDNRB Waardenburg–Shah knowledge-base entry once sources are available |
|---|---|---|
| Retrieval audit | A run log showing that literature, clinical-trial, and patent searches returned no retrievable documents, that no citable context IDs were created, and that OpenTargets failed after retries. | Use it as the provenance note for why the present entry is incomplete; after sources are ingested, replace this with a source inventory listing retrieved OMIM/Orphanet/GeneReviews/PubMed/ClinVar/gnomAD/MGI records. |
| Pending-fields table | A section-by-section map of the 15 requested disease-template domains that remain unpopulated because no evidence was retrievable. | Use it as the completion checklist: as each authoritative source is added, fill the corresponding disease-information, etiology, phenotype, mechanism, diagnostic, treatment, prevention, and model-organism fields. |
| Report scaffold | A structured outline mapping each requested section to the specific facts that should be populated, including identifiers, inheritance, phenotype terms, variant classes, diagnostics, management, and ontology mappings. | Use it as the assembly template for the final knowledge-base record once retrievable evidence exists; populate each placeholder with source-backed statements and linked ontology terms. |
| Query list | Reproducible search strings for Waardenburg–Shah syndrome, Waardenburg syndrome type IV, EDNRB, EDN3, Hirschsprung disease, SOX10, and endothelin-pathway terms. | Use it to rerun discovery across PubMed/Scholar/registry resources and retrieve the core primary papers, recent 2023–2024 reports, and disease-resource pages needed for the final report. |
| Minimum source set | A prioritized list of the core resource types needed for a cited entry: OMIM, Orphanet, GeneReviews, primary EDNRB/EDN3 papers, ClinVar, gnomAD, and MGI/IMPC. | Use it to curate the smallest authoritative evidence package that can support identifiers, genetics, variant interpretation, epidemiology, management, and model-organism sections. |
| Next-run input package | A concrete list of materials to provide directly, such as PMIDs, DOI links, PDFs, OMIM pages, Orphanet pages, GeneReviews links, ClinVar records, gnomAD pages, and MGI/IMPC entries. | Use it as the upload/request checklist for the next session so retrievable documents can be ingested and transformed into citable contexts for a complete evidence-backed entry. |
| Blocking-issue summary | A concise explanation of the key blockers: no retrievable papers, no citable contexts, OpenTargets failure, and grounded-answer submission being impossible without source contexts. | Use it to document technical limitations in the knowledge-base build process and to justify why synthesis must be deferred until at least one authoritative document is retrievable. |


*Table: This table summarizes the substitute artifacts produced when no citable sources could be retrieved for EDN3/EDNRB Waardenburg–Shah syndrome. It is useful as a handoff checklist for completing the knowledge-base entry once authoritative sources are available.*