| Resource | What to extract | Example query/URL pattern |
|---|---|---|
| GeneReviews | Clinical summary, inheritance, diagnosis, management | `Waardenburg syndrome PAX3 GeneReviews` |
| OMIM | Disease/gene entries, allelic variants, phenotype series | `PAX3 Waardenburg syndrome type 1 OMIM`; `PAX3 Waardenburg syndrome type 3 OMIM` |
| Orphanet | Rare disease definition, epidemiology, classification | `Orphanet Waardenburg syndrome type 1 PAX3` |
| MONDO | Disease ontology ID, mappings, labels/synonyms | `MONDO Waardenburg syndrome type 1`; `MONDO PAX3 Waardenburg` |
| MeSH | Controlled vocabulary term, indexing synonyms | `MeSH Waardenburg Syndrome` |
| ClinVar | Variant classifications, submitter evidence, HGVS | `PAX3[gene] AND Waardenburg syndrome` |
| ClinGen | Gene–disease validity, dosage sensitivity, curation status | `ClinGen PAX3 Waardenburg` |
| gnomAD | Population allele frequency, constraint, variant rarity | `gnomAD PAX3` |
| PubMed | Primary literature, reviews, case series, PMIDs | `PAX3 Waardenburg syndrome 2023`; `PAX3 Waardenburg syndrome 2024` |
| DECIPHER | CNVs/structural variants, phenotype-linked genomic cases | `DECIPHER PAX3` |
| HPO | Standard phenotype terms and frequencies | `HPO Waardenburg syndrome`; `PAX3 site:hpo.jax.org` |
| MGI/IMPC | Mouse models, knockout phenotypes, ortholog evidence | `MGI Pax3`; `IMPC Pax3` |
| ZFIN | Zebrafish ortholog models and developmental phenotypes | `ZFIN pax3a`; `ZFIN pax3b` |


*Table: This table lists the most useful databases to query for a complete PAX3 Waardenburg spectrum evidence review. It summarizes what each resource can provide and gives concise example search patterns for efficient follow-up retrieval.*
