| Input item to provide | Examples | Preferred format | Why it unlocks the report |
|---|---|---|---|
| Core disease references | OMIM entry for Waardenburg syndrome type IV / Waardenburg–Shah syndrome; Orphanet disease page | Stable URLs or exported PDFs | Provides authoritative disease definition, identifiers, synonyms, inheritance, and epidemiology fields needed for Sections 1 and 9 |
| Gene-level references | OMIM/NCBI Gene pages for **EDN3** and **EDNRB** | Stable URLs or PDFs | Enables accurate causal-gene descriptions, gene IDs, and genotype-focused narrative for Sections 2 and 4 |
| Primary literature PMIDs | Original human papers linking **EDNRB** or **EDN3** to Waardenburg–Shah / syndromic Hirschsprung disease | PMIDs preferred; DOI acceptable | Creates citable contexts for causal claims, historical gene discovery, and phenotype correlations |
| Recent review or case-series papers | 2023–2024 reviews, cohort studies, or case reports on WS4, EDNRB, EDN3, or syndromic Hirschsprung disease | PMIDs, DOI links, or PDFs | Supplies current understanding, latest statistics, and recent developments required by the user |
| Variant interpretation sources | ClinVar records for relevant **EDN3/EDNRB** variants; ClinGen if available | Variant URLs, ClinVar accession list, or CSV export | Supports pathogenic variant tables, ACMG-style interpretation, and variant-specific evidence in Section 4 |
| Population frequency sources | gnomAD pages for cited variants or gene constraint pages | Stable URLs or screenshots/PDFs | Allows allele-frequency context and rarity assessment for pathogenicity discussions |
| Clinical management sources | GeneReviews chapter; Hirschsprung disease surgical/guideline papers; audiology/hearing management references | URLs, PMIDs, or PDFs | Unlocks evidence-based diagnostics, treatment, prognosis, prevention, and counseling sections |
| Model-organism sources | MGI/IMPC pages for **Edn3** and **Ednrb** models; key mouse or zebrafish papers | Stable URLs, PMIDs, or PDFs | Enables mechanism, phenotype recapitulation, and model-organism sections with source-backed claims |


*Table: This table lists the minimum source materials that should be provided in a follow-up run to enable a fully cited report on EDN3/EDNRB Waardenburg–Shah syndrome. Each input type maps to a blocked report component and explains how it would unlock evidence-grounded synthesis.*