| Section | Required evidence (examples) | Status in current run | What to ingest to complete |
|---|---|---|---|
| 1. Disease Information | OMIM/Orphanet/GeneReviews entries; ICD/MeSH/MONDO mappings; synonym lists | Pending; no citable contexts retrieved | OMIM record, Orphanet disease page, GeneReviews chapter, MONDO cross-reference files |
| 2. Etiology | Primary papers on EDN3/EDNRB causality; ClinVar/ClinGen assertions; inheritance reports | Pending; no retrievable papers | PubMed-indexed case reports/series, ClinVar export, ClinGen gene-disease validity summaries |
| 3. Phenotypes | HPO-mapped case series; frequency tables; natural history studies | Pending; no phenotype studies retrieved | HPO annotations, OMIM clinical synopses, cohort/case-series PDFs |
| 4. Genetic/Molecular Information | Variant catalogs; functional assays; allele frequency resources; gene/protein database pages | Pending; no molecular evidence retrieved | ClinVar submissions, gnomAD pages, NCBI Gene/UniProt records, functional studies |
| 5. Environmental Information | Gene-environment studies; exposure data; CTD/PubMed evidence | Likely sparse/possibly not applicable, but uncitable here | CTD records, reviews on modifier/environmental contributors, epidemiologic papers |
| 6. Mechanism / Pathophysiology | Reviews and primary studies on endothelin-3/EDNRB signaling, neural crest, ENS, melanocytes | Pending; no mechanistic contexts | Pathway reviews, developmental biology papers, mouse/zebrafish mechanistic studies |
| 7. Anatomical Structures Affected | Clinical/anatomic descriptions; ontology-linked organ/tissue/cell involvement | Pending; no source extraction possible | HPO/UBERON-linked resources, pathology reports, anatomy-focused reviews |
| 8. Temporal Development | Onset/progression data; longitudinal follow-up; natural history reports | Pending; no longitudinal evidence | Natural history studies, case series with age-at-onset and progression details |
| 9. Inheritance and Population | Prevalence/incidence estimates; inheritance data; founder variant studies; demographic analyses | Pending; no epidemiology/population contexts | Orphanet epidemiology data, population genetics papers, registry studies |
| 10. Diagnostics | Diagnostic criteria; differential diagnosis reviews; GTR testing options; sequencing utility studies | Pending; no diagnostic sources retrieved | GeneReviews/clinical guidelines, GTR listings, WES/WGS diagnostic yield studies |
| 11. Outcome/Prognosis | Survival/morbidity/QoL data; complication rates; prognostic factor studies | Pending; no outcomes evidence | Natural history cohorts, surgical outcome papers, QoL studies |
| 12. Treatment | Hirschsprung surgical management papers; hearing/vision interventions; supportive care guidance; trial data | Pending; no treatment contexts or trials | Surgical guidelines, case series, rehabilitation/hearing intervention studies, trial records |
| 13. Prevention | Genetic counseling guidance; prenatal/PGT reports; cascade testing recommendations | Pending; no prevention sources | ACMG/NSGC guidance, prenatal diagnosis papers, family screening literature |
| 14. Other Species / Natural Disease | OMIA/veterinary reports; comparative pathology studies; ortholog evidence | Pending; no comparative disease evidence | OMIA entries, veterinary case reports, comparative genetics reviews |
| 15. Model Organisms | MGI/ZFIN data; knockout/knock-in studies; phenotype recapitulation papers | Pending; no model-organism papers retrieved | MGI/ZFIN records, IMPC phenotyping, primary mouse/zebrafish papers |


*Table: This table lists all 15 requested disease knowledge-base sections, the evidence needed to populate each one, the current evidence gap in this run, and the materials that should be ingested to complete a fully cited report.*