| Resource type | Examples to retrieve (specific) | Why needed | Typical fields extracted |
|---|---|---|---|
| OMIM | Waardenburg syndrome type IV entries; EDNRB gene entry; EDN3 gene entry | Canonical disease/gene definitions and allelic relationships | OMIM IDs, phenotype names, synonyms, inheritance, allelic variants, clinical synopsis |
| Orphanet | Orphanet disease page for Waardenburg syndrome type IV / Waardenburg-Shah syndrome | Rare-disease identifiers, epidemiology, and care-oriented summaries | Orpha number, synonyms, prevalence, age of onset, inheritance, diagnostic/management notes |
| GeneReviews | GeneReviews chapter on Waardenburg syndrome / syndromic Hirschsprung disease | Practical clinical synthesis for diagnosis, testing, counseling, and management | Testing strategy, differential diagnosis, surveillance, recurrence risk, family counseling |
| Primary gene-discovery papers: EDNRB | Original human papers linking EDNRB to Hirschsprung disease and Waardenburg-Shah/WS4 | Required for PMID-backed causal claims and historical grounding | PMID, year, cohort size, variant type, inheritance, phenotype correlation, functional evidence |
| Primary gene-discovery papers: EDN3 | Original human papers linking EDN3 to Hirschsprung disease and Waardenburg-Shah/WS4 | Required for PMID-backed causal claims and genotype-specific assertions | PMID, year, family/case details, variants, zygosity, segregation, phenotype spectrum |
| Recent reviews / case series (2023-2024) | 2023-2024 reviews on WS4/syndromic Hirschsprung; recent EDNRB/EDN3 case reports or cohorts | Needed for current understanding, updated variant spectrum, and latest real-world implementations | Publication date, PMID/DOI, summary of current concepts, recent statistics, new variants, management updates |
| ClinVar | EDNRB and EDN3 variant records relevant to WS4/HSCR | Variant interpretation and submission-level clinical assertions | HGVS, clinical significance, review status, condition name, submitter evidence |
| gnomAD | EDNRB and EDN3 browser pages / variant frequencies | Population frequency to contextualize rarity and ACMG interpretation | Allele count, allele frequency, ancestry distribution, constraint metrics |
| MGI / IMPC | Ednrb and Edn3 mouse models; IMPC knockout phenotypes | Model-organism evidence for mechanism and phenotype recapitulation | Alleles/models, phenotype terms, affected organs/cell types, viability, mechanistic relevance |


*Table: This table lists the smallest authoritative resource set needed to build a properly cited EDN3/EDNRB Waardenburg–Shah syndrome report. It helps prioritize retrieval of core disease, gene, variant, recent literature, and model-organism sources.*