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Add Gene2Phenotype (G2P) terminology value sets #79

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Add Gene2Phenotype (G2P) terminology value sets #79

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bb97250
Add Gene2Phenotype (G2P) terminology value sets
claude Aug 17, 2026
d89776c
Address review feedback on G2P value sets
claude Aug 18, 2026
332aa0e
Record verification provenance and fix OWL loss of the NMD axis
claude Aug 18, 2026
bca25b9
Guard the NMD axis mirroring with tests
claude Aug 18, 2026
dfb75ce
Close a blind spot in the NMD axis guard
claude Aug 18, 2026
a3d4144
Record which drift the toolchain already catches, and which it does not
claude Aug 18, 2026
2294e62
Pin the provenance of both generator claims
claude Aug 18, 2026
45db6ce
Pin the OWL generator claim in the shipped enum description
claude Aug 18, 2026
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5 changes: 5 additions & 0 deletions cache/hp/terms.csv
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Original file line number Diff line number Diff line change
Expand Up @@ -40,3 +40,8 @@ HP:0032113,Semidominant inheritance,2025-12-14T23:20:37.169244
HP:0034339,Pseudoautosomal inheritance,2025-12-14T23:20:37.169578
HP:0034340,Pseudoautosomal dominant inheritance,2025-12-14T23:20:37.169815
HP:0034341,Pseudoautosomal recessive inheritance,2025-12-14T23:20:37.170032
HP:0003743,Genetic anticipation,2026-08-17T19:00:41.286444
HP:0034338,Imprinted,2026-08-17T19:00:41.287227
HP:0025352,Typically de novo,2026-08-17T19:00:41.287810
HP:0001442,Typified by somatic mosaicism,2026-08-17T19:00:41.288402
HP:0003829,Typified by incomplete penetrance,2026-08-17T19:00:41.288988
40 changes: 40 additions & 0 deletions cache/so/terms.csv
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Expand Up @@ -74,3 +74,43 @@ SO:0000577,centromere,2025-10-19T07:20:41.328719
SO:0000624,telomere,2025-10-19T07:20:41.329032
SO:0000987,linear,2025-10-19T07:20:43.761336
SO:0000988,circular,2025-10-19T07:20:43.761728
SO:0002314,altered_gene_product_level,2026-08-17T19:00:42.014211
SO:0002316,decreased_gene_product_level,2026-08-17T19:00:42.015123
SO:0002317,absent_gene_product,2026-08-17T19:00:42.015684
SO:0002315,increased_gene_product_level,2026-08-17T19:00:42.016236
SO:0002318,altered_gene_product_sequence,2026-08-17T19:00:42.016746
SO:0002220,function_uncertain_variant,2026-08-17T19:00:42.017327
SO:0002319,NMD_triggering_variant,2026-08-17T19:00:42.018111
SO:0002320,NMD_escaping_variant,2026-08-17T19:00:42.018625
SO:0002321,stop_gained_NMD_triggering,2026-08-17T19:00:42.019167
SO:0002322,stop_gained_NMD_escaping,2026-08-17T19:00:42.019680
SO:0002323,frameshift_variant_NMD_triggering,2026-08-17T19:00:42.020247
SO:0002324,frameshift_variant_NMD_escaping,2026-08-17T19:00:42.020763
SO:0002325,splice_donor_variant_NMD_triggering,2026-08-17T19:00:42.021331
SO:0002326,splice_donor_variant_NMD_escaping,2026-08-17T19:00:42.021839
SO:0002327,splice_acceptor_variant_NMD_triggering,2026-08-17T19:00:42.022449
SO:0002328,splice_acceptor_variant_NMD_escaping,2026-08-17T19:00:42.023000
SO:0001630,splice_region_variant,2026-08-17T19:00:42.023528
SO:0001574,splice_acceptor_variant,2026-08-17T19:00:42.024070
SO:0001575,splice_donor_variant,2026-08-17T19:00:42.024584
SO:0001623,5_prime_UTR_variant,2026-08-17T19:00:42.025130
SO:0001624,3_prime_UTR_variant,2026-08-17T19:00:42.025648
SO:0001566,regulatory_region_variant,2026-08-17T19:00:42.026246
SO:0002012,start_lost,2026-08-17T19:00:42.026768
SO:0001587,stop_gained,2026-08-17T19:00:42.027328
SO:0001578,stop_lost,2026-08-17T19:00:42.027912
SO:0001589,frameshift_variant,2026-08-17T19:00:42.028438
SO:0001583,missense_variant,2026-08-17T19:00:42.029001
SO:0001821,inframe_insertion,2026-08-17T19:00:42.029544
SO:0001822,inframe_deletion,2026-08-17T19:00:42.030133
SO:0001819,synonymous_variant,2026-08-17T19:00:42.030658
SO:0001627,intron_variant,2026-08-17T19:00:42.031214
SO:0001628,intergenic_variant,2026-08-17T19:00:42.031739
SO:0001619,non_coding_transcript_variant,2026-08-17T19:00:42.032295
SO:0002161,short_tandem_repeat_change,2026-08-17T19:00:42.032826
SO:0001019,copy_number_variation,2026-08-17T19:00:42.033415
SO:0001893,transcript_ablation,2026-08-17T19:00:42.034028
SO:0001889,transcript_amplification,2026-08-17T19:00:42.034584
SO:0002054,loss_of_function_variant,2026-08-18T22:40:00.000000
SO:0002053,gain_of_function_variant,2026-08-18T22:40:00.000000
SO:0002052,dominant_negative_variant,2026-08-18T22:40:00.000000
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