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Clean up disease IDs, and change how HPO terms are sourced - #523

Merged

hdashnow merged 18 commits into

mainfrom

mondo

Oct 8, 2026

Commits on Oct 7, 2026
- add missing mondo ids and fix mondo id for FRDA + regenerate HPO terms
  hdashnow
  committed
  be634c1
- add HPO terms for new mondo ids
  hdashnow
  committed
  2b4f323
- Update MONDO/OMIM and HPO annotations for FTDALS1_C9orf72, ALS1_NIPA1, CJD_PRNP, and XLID_SOX3
  hdashnow
  committed
  1938846
- added autism mondo id to FRA7A_ZNF713 and updated hpo terms
  hdashnow
  committed
  bf0e844
- Use the more specific MONDO ID for FRDA_FXN
  
  hdashnow
  and
  claude
  committed
  22ea78d
- Fetch HPO terms from HPO annotations using OMIM and Orphanet IDs
  
  hdashnow
  and
  claude
  committed
  53c852e
- Update Orphanet and OMIM cross-references
  
  hdashnow
  and
  claude
  committed
  aa584df
- Regenerate HPO terms from OMIM and Orphanet annotations
  
  hdashnow
  and
  claude
  committed
  63e0d10
- Rename SD5_HOXD13 to SPD1_HOXD13
  
  hdashnow
  and
  claude
  committed
  518c2a1
- Add omim_gene field and keep omim for disease entries
  
  hdashnow
  and
  claude
  committed
  f14a9ee
- Align criTRia curations with STRchive loci
  
  hdashnow
  and
  claude
  committed
  c16dab2
- Update data
  hdashnow
  committed
  574662f
- Use HSAN-VIII as the disease ID for HSAN-VIII_PRDM12
  
  hdashnow
  and
  claude
  committed
  7d49a63
- Update data
  hdashnow
  committed
  92e09c2
- rename ALS1_NIPA1 -> ALS_NIPA1
  hdashnow
  committed
  621e3e7
- Update data
  hdashnow
  committed
  2b82835
- increment version
  hdashnow
  committed
  7acf15f
- Update data
  
  hdashnow
  authored and
  github-actions[bot]
  committed
  daf3bde

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Clean up disease IDs, and change how HPO terms are sourced - #523

Clean up disease IDs, and change how HPO terms are sourced#523
hdashnow merged 18 commits into
mainfrom
mondo

Commits on Oct 7, 2026

add missing mondo ids and fix mondo id for FRDA + regenerate HPO terms

add HPO terms for new mondo ids

Update MONDO/OMIM and HPO annotations for FTDALS1_C9orf72, ALS1_NIPA1, CJD_PRNP, and XLID_SOX3

added autism mondo id to FRA7A_ZNF713 and updated hpo terms

Use the more specific MONDO ID for FRDA_FXN

Fetch HPO terms from HPO annotations using OMIM and Orphanet IDs

Update Orphanet and OMIM cross-references

Regenerate HPO terms from OMIM and Orphanet annotations

Rename SD5_HOXD13 to SPD1_HOXD13

Add omim_gene field and keep omim for disease entries

Align criTRia curations with STRchive loci

Update data

Use HSAN-VIII as the disease ID for HSAN-VIII_PRDM12

Update data

rename ALS1_NIPA1 -> ALS_NIPA1

Update data

increment version

Update data