| Step | Action | Expected output |
|---|---|---|
| 1 | Re-run the evidence workflow once literature retrieval is working, starting with broad queries such as `SOX10 Waardenburg Hirschsprung`, `SOX10 PCWH syndrome`, and `SOX10 genotype phenotype`. | Retrieved papers/context IDs, usable PMIDs, publication dates, and evidence for a fully cited report. |
| 2 | Manually retrieve authoritative sources using the provided URLs for OMIM, Orphanet, PubMed, ClinVar, ClinGen, gnomAD, GeneReviews, DECIPHER, HPO, ClinicalTrials.gov, MGI, and ZFIN. | Verified disease identifiers, synonyms, variant data, phenotype mappings, management guidance, and model-organism evidence. |
| 3 | Use the prepared report template to populate the knowledge base entry section by section after sources are collected and verified. | A structured disease entry with identifiers, phenotypes, mechanisms, diagnostics, treatment, prognosis, prevention, and ontology mappings ready for knowledge-base ingestion. |


*Table: This table summarizes the immediate next steps after the failed retrieval session. It shows how to move from rerunning retrieval, to manual source collection, to populating the disease knowledge base entry.*