HOXD_SD5-critria-update#438
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May 23, 2026
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Updated the HOXD13_SD5 criTRia JSON evidence details and root-level description for the HOXD13 polyalanine expansion locus associated with autosomal dominant synpolydactyly type 5. The update replaces null/vague evidence-detail fields with concise curator-style summaries while preserving the original schema, scores, category summaries, total score, classification, publication count, and publication interval.
Fixes: # #437
Major Changes
Added a root-level disease/locus description for HOXD13_SD5, summarizing the association between HOXD13 exon 1 polyalanine expansions and synpolydactyly type 5.
Updated genetic evidence details for:
Updated the non-human model organism evidence detail using the Hoxd13 +7A synpolydactyly mouse model and transcriptional condensate findings.
Minor Changes
category_summary,supercategory_summary,total_score,classification,publication_count, andpublication_interval_years.Checklist
CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.