| Source | What to extract (fields) | Example URL pattern | Notes |
|---|---|---|---|
| OMIM | Preferred disease label; gene–disease relationships; phenotype series; inheritance; allelic variants; clinical synopsis | `https://www.omim.org/search?search=SOX10` | Use to verify whether SOX10-related presentations are represented as Waardenburg syndrome subtypes, PCWH, or related entries; this session could not retrieve papers, so URL patterns are generic. |
| Orphanet | Rare disease definition; synonyms; epidemiology; inheritance; diagnostic/support resources; cross-references | `https://www.orpha.net/en/disease/search?query=SOX10` | Especially useful for rare-disease naming and prevalence summaries; generic URL pattern only. |
| MONDO | Disease ontology identifier; exact/related synonyms; mappings to OMIM/Orphanet/MeSH/ICD | `https://monarchinitiative.org/disease/MONDO:*` | Best for ontology harmonization and knowledge-base normalization; look up by disease name if no direct ID is known. |
| MeSH | Controlled vocabulary term; broader/narrower disease indexing; PubMed linkage | `https://meshb.nlm.nih.gov/search?searchInField=termDescriptor&sort=&searchType=exactMatch&searchMethod=FullWord&q=SOX10` | Helpful for standardized indexing and literature search expansion; generic search link shown. |
| GeneReviews | Clinical overview; diagnosis; differential diagnosis; management; surveillance; genetic counseling | `https://www.ncbi.nlm.nih.gov/books/?term=SOX10+GeneReviews` | High-yield source for diagnostic/testing strategy and family counseling; chapter may be under Waardenburg syndrome rather than SOX10-only naming. |
| ClinVar | Variant-level assertions; HGVS nomenclature; clinical significance; submitter evidence; condition names | `https://www.ncbi.nlm.nih.gov/clinvar/?term=SOX10%5Bgene%5D` | Use for pathogenic/likely pathogenic/VUS curation and condition associations; compare multiple submitters. |
| ClinGen | Gene–disease validity; dosage sensitivity; expert curation; variant interpretation guidance | `https://search.clinicalgenome.org/kb/genes/HGNC:11190` | Important for evidence strength and curation status; direct gene page may require HGNC ID lookup. |
| gnomAD | Population allele frequency; presence/absence in reference populations; constraint metrics | `https://gnomad.broadinstitute.org/gene/ENSG00000100146` | Use to assess rarity of candidate variants and gene constraint; exact gene ID may need confirmation. |
| PubMed | Primary case reports; cohort studies; reviews; genotype–phenotype correlations; mechanistic studies | `https://pubmed.ncbi.nlm.nih.gov/?term=SOX10+Waardenburg+Hirschsprung` | Core source for PMIDs, dates, and abstract quotes; this session could not retrieve papers, so only generic search patterns can be provided. |
| DECIPHER | CNVs/structural variants; phenotype annotations; patient-level genotype–phenotype data | `https://www.deciphergenomics.org/search?q=SOX10` | Useful for deletions/rearrangements involving SOX10 and structured phenotype comparison. |
| HPO | Standard phenotype terms; IDs; hierarchy; onset/frequency modifiers | `https://hpo.jax.org/app/search/term?query=SOX10` | Use to map hearing loss, pigmentary anomalies, aganglionosis, neuropathy, leukodystrophy, and developmental features to HPO terms. |
| MGI / ZFIN | Model organism alleles; phenotype recapitulation; developmental/mechanistic evidence | `https://www.informatics.jax.org/searchtool/Search.do?query=Sox10` / `https://zfin.org/search?category=gene&q=sox10` | Key for mouse and zebrafish evidence on neural crest, melanocyte, ENS, and myelination biology. |
| ClinicalTrials.gov | Interventional/observational studies; supportive care studies; natural history protocols | `https://clinicaltrials.gov/search?term=SOX10` | Disease-specific trials may be sparse; also search related entities such as Waardenburg syndrome, Hirschsprung disease, and leukodystrophy. |


*Table: This table lists the main authoritative resources to consult for a SOX10 neurocristopathy spectrum report, what fields to extract from each, and generic URL/search patterns. It is useful because this session could not retrieve papers, so it provides a structured fallback plan for evidence gathering.*