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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Should we mark non-exact mappings to ORDO, OMIM and DO as excluded? #7564

Open matentzn opened 5 months ago

matentzn commented 5 months ago

Wondering out loud what our communication should be about non-exact mappings. Since we dont technically include the mapped term should it be officially excluded?

I personally think so. Only exact mapping to what we count as coverage..

Non exact DO mappings ``` DOID:0050523 {source="MONDO:relatedTo", source="EFO:0000209"} DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo"} DOID:0050987 {source="MONDO:relatedTo"} DOID:0060042 {source="MONDO:relatedTo", source="EFO:0003759"} DOID:0060160 {source="MONDO:mondoIsNarrowerThanSource"} DOID:0070020 {source="MONDO:relatedTo"} DOID:0070136 {source="MONDO:relatedTo"} DOID:0080130 {source="MONDO:directSiblingOf"} DOID:0080813 {source="MONDO:mondoIsBroaderThanSource"} DOID:0080814 {source="MONDO:mondoIsBroaderThanSource"} DOID:0080816 {source="MONDO:mondoIsBroaderThanSource"} DOID:0080824 {source="MONDO:mondoIsBroaderThanSource"} DOID:0080832 {source="MONDO:mondoIsBroaderThanSource"} DOID:0110305 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"} DOID:0111368 {source="MONDO:mondoIsNarrowerThanSource"} DOID:0111649 {source="MONDO:relatedTo"} DOID:0111823 {source="MONDO:mondoIsBroaderThanSource"} DOID:10003 {source="EFO:1001176", source="MONDO:relatedTo"} DOID:11503 {source="MONDO:relatedTo", source="EFO:0000401"} DOID:12700 {source="MONDO:relatedTo", source="EFO:0007319"} DOID:12783 {source="MONDO:relatedTo", source="EFO:0005296"} DOID:150 {source="MONDO:relatedTo", source="EFO:0000677"} DOID:2536 {source="MONDO:relatedTo"} DOID:2848 {source="EFO:0003761", source="MONDO:directSiblingOf"} DOID:2883 {source="EFO:0000284", source="MONDO:directSiblingOf"} DOID:3117 {source="MONDO:mondoIsBroaderThanSource"} DOID:3491 {source="MONDO:relatedTo"} DOID:417 {source="MONDO:relatedTo"} DOID:676 {source="EFO:0002609", source="MONDO:relatedTo"} DOID:6776 {source="EFO:0002609", source="MONDO:relatedTo"} DOID:688 {source="EFO:0000514", source="MONDO:directSiblingOf"} DOID:7320 {source="MONDO:relatedTo", source="EFO:0002510"} DOID:7571 {source="MONDO:relatedTo"} ```
Non exact OMIM mappings ``` OMIM:125530 {source="MONDO:relatedTo", source="GARD:0007170"} OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:231237", source="Orphanet:231237/ntbt"} OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} OMIM:141749 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} OMIM:141900 {source="MONDO:relatedTo", source="UMLS:C0019025"} OMIM:142200 {source="MONDO:relatedTo", source="UMLS:C0019025"} OMIM:142250 {source="MONDO:relatedTo", source="UMLS:C0019025"} OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} OMIM:142470 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} OMIM:175020 {source="Orphanet:157798/btnt", source="MONDO:relatedTo", source="Orphanet:157798"} OMIM:267800 {source="Orphanet:99002/e", source="MONDO:mondoIsBroaderThanSource", source="Orphanet:99002"} OMIM:300054 {source="MONDO:relatedTo"} OMIM:300910 {source="MONDO:relatedTo", source="Orphanet:391330", source="Orphanet:391330/nd"} OMIM:310300 {source="MONDO:relatedTo", source="Orphanet:98863", source="DOID:0070246", source="Orphanet:98863/e"} OMIM:602089 {source="MONDO:relatedTo"} OMIM:604547 {source="Orphanet:888/btnt", source="MONDO:relatedTo", source="Orphanet:888"} OMIM:606798 {source="MONDO:relatedTo"} OMIM:607507 {source="MONDO:relatedTo", source="EFO:0003778"} OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:251380/btnt", source="Orphanet:251380"} OMIM:613566 {source="MONDO:relatedTo", source="Orphanet:46532/btnt", source="Orphanet:46532"} OMIM:614157 {source="MONDO:mondoIsNarrowerThanSource"} OMIM:615221 {source="MONDO:relatedTo", source="Orphanet:85193/btnt", source="Orphanet:85193"} ```
Non exact OMIMPS mappings ``` OMIMPS:145600 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"} OMIMPS:151623 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"} OMIMPS:209850 {source="MONDO:relatedTo"} OMIMPS:226400 {source="MONDO:relatedTo"} OMIMPS:300751 {source="MONDO:relatedTo", source="https://orcid.org/0000-0002-6601-2165"} OMIMPS:610551 {source="MONDO:relatedTo"} ```
Non exact ORDO mappings ``` Orphanet:100032 {source="MONDO:mondoIsNarrowerThanSource", source="OMIM:130900"} Orphanet:100976 {source="DOID:0060656", source="OMIM:242300", source="MONDO:directSiblingOf"} Orphanet:101016 {source="MONDO:directSiblingOf", source="OMIM:613693"} Orphanet:101016 {source="OMIM:600919", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:603830", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:611818", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:611819", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:611820", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:612955", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:613485", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:613688", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:613695", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:616247", source="MONDO:directSiblingOf"} Orphanet:101016 {source="OMIM:616249", source="MONDO:directSiblingOf"} Orphanet:1074 {source="MONDO:relatedTo", source="GARD:0000697"} Orphanet:112 {source="OMIM:601198", source="MONDO:relatedTo"} Orphanet:1135 {source="MONDO:relatedTo", source="OMIM:603457"} Orphanet:1334 {source="MONDO:relatedTo", source="OMIM:613953"} Orphanet:1377 {source="MONDO:relatedTo", source="OMIM:601547"} Orphanet:1377 {source="MONDO:relatedTo", source="OMIM:604219"} Orphanet:1377 {source="OMIM:116200", source="MONDO:relatedTo"} Orphanet:137783 {source="DOID:0060560", source="MONDO:directSiblingOf"} Orphanet:137783 {source="OMIM:614915", source="MONDO:directSiblingOf"} Orphanet:139474 {source="OMIM:613675", source="MONDO:relatedTo"} Orphanet:140957 {source="MONDO:relatedTo", source="DOID:0060691", source="OMIM:187800"} Orphanet:141083 {source="OMIM:149700", source="MONDO:directSiblingOf"} Orphanet:1465 {source="MONDO:relatedTo", source="OMIM:617808"} Orphanet:1525 {source="OMIM:259100", source="MONDO:directSiblingOf"} Orphanet:1527 {source="MONDO:relatedTo", source="OMIM:185900"} Orphanet:154 {source="OMIM:615248", source="MONDO:relatedTo"} Orphanet:157798 {source="MONDO:relatedTo", source="OMIM:175020"} Orphanet:158014 {source="OMIM:602782", source="MONDO:relatedTo"} Orphanet:160 {source="MONDO:relatedTo", source="OMIM:148000"} Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:300554"} Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:308990"} Orphanet:1652 {source="MONDO:relatedTo", source="OMIM:310468"} Orphanet:168486 {source="MONDO:relatedTo"} Orphanet:169147 {source="OMIM:120790", source="MONDO:directSiblingOf"} Orphanet:169154 {source="DOID:0090014", source="MONDO:directSiblingOf", source="OMIM:608971"} Orphanet:169157 {source="MONDO:directSiblingOf", source="OMIM:608971"} Orphanet:169160 {source="MONDO:relatedTo", source="OMIM:608971"} Orphanet:171695 {source="OMIM:168601", source="MONDO:directSiblingOf"} Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609284"} Orphanet:171881 {source="MONDO:relatedTo", source="OMIM:609285"} Orphanet:178145 {source="OMIM:117000", source="MONDO:relatedTo"} Orphanet:1797 {source="MONDO:relatedTo", source="DOID:0050568"} Orphanet:1797 {source="MONDO:relatedTo", source="OMIM:122600"} Orphanet:183466 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:183469 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:183481 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:183616 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:1871 {source="OMIM:300085", source="MONDO:relatedTo"} Orphanet:1872 {source="MONDO:relatedTo", source="OMIM:304020"} Orphanet:1991 {source="MONDO:relatedTo", source="OMIM:225060"} Orphanet:1991 {source="OMIM:129400", source="MONDO:relatedTo"} Orphanet:206634 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:209919 {source="MONDO:relatedTo", source="OMIM:215600"} Orphanet:215 {source="GARD:0003995", source="MONDO:relatedTo"} Orphanet:216804 {source="MONDO:directSiblingOf", source="OMIM:610915"} Orphanet:216804 {source="OMIM:259440", source="MONDO:directSiblingOf"} Orphanet:216804 {source="OMIM:610682", source="MONDO:directSiblingOf"} Orphanet:216812 {source="MONDO:directSiblingOf", source="OMIM:610915"} Orphanet:216812 {source="OMIM:259440", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:610682", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:610968", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:613848", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:613982", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:614856", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:615220", source="MONDO:directSiblingOf"} Orphanet:216812 {source="OMIM:616229", source="MONDO:directSiblingOf"} Orphanet:216820 {source="MONDO:directSiblingOf", source="OMIM:613849"} Orphanet:216820 {source="OMIM:259440", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:610682", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:610968", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:613982", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:615066", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:615220", source="MONDO:directSiblingOf"} Orphanet:216820 {source="OMIM:616507", source="MONDO:directSiblingOf"} Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} Orphanet:217566 {source="OMIM:610913", source="MONDO:directSiblingOf"} Orphanet:2190 {source="MONDO:relatedTo", source="OMIM:143400"} Orphanet:220497 {source="OMIM:611560", source="MONDO:directSiblingOf"} Orphanet:220497 {source="OMIM:614424", source="MONDO:directSiblingOf"} Orphanet:2246 {source="OMIM:213000", source="MONDO:relatedTo"} Orphanet:2253 {source="MONDO:relatedTo", source="OMIM:136520"} Orphanet:228012 {source="OMIM:606346", source="MONDO:relatedTo"} Orphanet:228215 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:228384 {source="MONDO:relatedTo", source="OMIM:613443"} Orphanet:228402 {source="MONDO:relatedTo", source="OMIM:156200"} Orphanet:231183 {source="MONDO:OtherRelationship", source="OMIM:500004", source="DOID:0110829", source="MONDO:directSiblingOf"} Orphanet:2318 {source="MONDO:relatedTo", source="OMIM:614844"} Orphanet:2343 {source="MONDO:relatedTo", source="OMIM:600775"} Orphanet:2369 {source="MONDO:relatedTo"} Orphanet:2387 {source="OMIM:151600", source="MONDO:directSiblingOf"} Orphanet:247806 {source="OMIM:175100", source="MONDO:directSiblingOf"} Orphanet:247871 {source="MONDO:relatedTo", source="OMIM:606579"} Orphanet:251262 {source="MONDO:directSiblingOf", source="OMIM:165800"} Orphanet:2514 {source="MONDO:relatedTo", source="OMIM:616311"} Orphanet:251627 {source="MONDO:relatedTo", source="OMIM:137800"} Orphanet:251627 {source="OMIM:616568", source="MONDO:relatedTo"} Orphanet:251630 {source="MONDO:relatedTo", source="OMIM:137800"} Orphanet:251630 {source="OMIM:616568", source="MONDO:relatedTo"} Orphanet:251899 {source="OMIM:260500", source="MONDO:directSiblingOf"} Orphanet:253 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:2542 {source="MONDO:relatedTo", source="DOID:0060840", source="OMIM:251600"} Orphanet:2542 {source="MONDO:relatedTo", source="OMIM:212550"} Orphanet:263417 {source="OMIM:601198", source="MONDO:relatedTo"} Orphanet:2677 {source="MONDO:relatedTo", source="OMIM:612219"} Orphanet:272 {source="GARD:0006475", source="MONDO:directSiblingOf"} Orphanet:276575 {source="OMIM:256450", source="MONDO:directSiblingOf"} Orphanet:28 {source="MONDO:relatedTo", source="OMIM:277410"} Orphanet:280369 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:280892 {source="GARD:0004457", source="MONDO:directSiblingOf"} Orphanet:281090 {source="MONDO:relatedTo", source="OMIM:308100"} Orphanet:281122 {source="DOID:0060656", source="OMIM:242300", source="MONDO:directSiblingOf"} Orphanet:289365 {source="MONDO:relatedTo", source="DOID:9620"} Orphanet:2929 {source="OMIM:612242", source="MONDO:relatedTo"} Orphanet:2932 {source="MONDO:relatedTo"} Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"} Orphanet:2969 {source="OMIM:158350", source="MONDO:relatedTo"} Orphanet:298 {source="MONDO:relatedTo", source="OMIM:603041"} Orphanet:298 {source="MONDO:relatedTo", source="OMIM:612075"} Orphanet:298 {source="OMIM:613662", source="MONDO:relatedTo"} Orphanet:301 {source="MONDO:relatedTo", source="OMIM:137800"} Orphanet:307 {source="MONDO:relatedTo", source="OMIM:604827"} Orphanet:308380 {source="MONDO:relatedTo", source="OMIM:277410"} Orphanet:308442 {source="MONDO:relatedTo", source="OMIM:277410"} Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"} Orphanet:3109 {source="OMIM:158330", source="MONDO:directSiblingOf"} Orphanet:313 {source="MONDO:relatedTo", source="DOID:0060656", source="GARD:0003170", source="OMIM:242300"} Orphanet:313 {source="MONDO:relatedTo", source="OMIM:617571"} Orphanet:314701 {source="MONDO:relatedTo", source="OMIM:254500"} Orphanet:319487 {source="MONDO:relatedTo", source="OMIM:188550"} Orphanet:3212 {source="OMIM:125250", source="MONDO:relatedTo"} Orphanet:323 {source="MONDO:relatedTo", source="OMIM:300676", source="DOID:0060821"} Orphanet:325697 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:325706 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:3267 {source="MONDO:relatedTo", source="OMIM:600775"} Orphanet:329173 {source="OMIM:615895", source="MONDO:relatedTo"} Orphanet:33069 {source="MONDO:relatedTo", source="OMIM:612164"} Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613989"} Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613990"} Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:615190"} Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:616353"} Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:616553"} Orphanet:334 {source="MONDO:relatedTo", source="OMIM:613120"} Orphanet:334 {source="OMIM:611819", source="MONDO:relatedTo"} Orphanet:3403 {source="OMIM:107970", source="MONDO:relatedTo"} Orphanet:34149 {source="OMIM:603860", source="MONDO:relatedTo", source="OMIM:609886"} Orphanet:3460 {source="MONDO:relatedTo", source="OMIM:277950"} Orphanet:35093 {source="MONDO:relatedTo", source="OMIM:600775"} Orphanet:352596 {source="MONDO:relatedTo", source="OMIM:615338"} Orphanet:352737 {source="OMIM:606952", source="MONDO:directSiblingOf"} Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:360 {source="MONDO:relatedTo", source="OMIM:137800"} Orphanet:360 {source="MONDO:relatedTo", source="OMIM:613029"} Orphanet:36367 {source="MONDO:relatedTo", source="OMIM:612337"} Orphanet:364803 {source="MONDO:relatedTo"} Orphanet:369999 {source="MONDO:relatedTo", source="OMIM:148700"} Orphanet:370002 {source="MONDO:relatedTo", source="OMIM:148700"} Orphanet:370088 {source="MONDO:relatedTo", source="OMIM:615486"} Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:606612"} Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:615351"} Orphanet:370959 {source="OMIM:613155", source="MONDO:relatedTo"} Orphanet:370959 {source="OMIM:613156", source="MONDO:relatedTo"} Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:606612"} Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:608840"} Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:615351"} Orphanet:370968 {source="OMIM:613155", source="MONDO:relatedTo"} Orphanet:370968 {source="OMIM:613156", source="MONDO:relatedTo"} Orphanet:370980 {source="MONDO:relatedTo", source="OMIM:606612"} Orphanet:370997 {source="MONDO:relatedTo", source="OMIM:616538"} Orphanet:371428 {source="MONDO:relatedTo", source="OMIM:277950"} Orphanet:391411 {source="DOID:0060894", source="MONDO:directSiblingOf"} Orphanet:391411 {source="MONDO:relatedTo", source="OMIM:615530"} Orphanet:404466 {source="OMIM:617712", source="MONDO:directSiblingOf"} Orphanet:411 {source="MONDO:relatedTo", source="OMIM:118830"} Orphanet:435938 {source="MONDO:directSiblingOf", source="OMIM:300998"} Orphanet:436252 {source="MONDO:relatedTo"} Orphanet:44 {source="OMIM:601539", source="MONDO:directSiblingOf"} Orphanet:440392 {source="OMIM:610913", source="MONDO:directSiblingOf"} Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:301008"} Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617836"} Orphanet:442835 {source="MONDO:relatedTo", source="OMIM:617854"} Orphanet:442835 {source="OMIM:617830", source="MONDO:relatedTo"} Orphanet:442835 {source="OMIM:617831", source="MONDO:relatedTo"} Orphanet:447893 {source="DOID:0060794", source="MONDO:relatedTo"} Orphanet:447896 {source="DOID:0060794", source="MONDO:relatedTo"} Orphanet:448426 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:454887 {source="GARD:0000046", source="MONDO:relatedTo"} Orphanet:459070 {source="MONDO:relatedTo", source="OMIM:300998"} Orphanet:463 {source="MONDO:relatedTo"} Orphanet:465508 {source="DOID:0111029", source="MONDO:mondoIsBroaderThanSource"} Orphanet:477811 {source="MONDO:relatedTo"} Orphanet:488191 {source="MONDO:relatedTo", source="OMIM:616780"} Orphanet:488191 {source="OMIM:617743", source="MONDO:relatedTo"} Orphanet:493348 {source="MONDO:relatedTo"} Orphanet:49382 {source="MONDO:relatedTo", source="OMIM:613093"} Orphanet:495 {source="OMIM:133200", source="MONDO:directSiblingOf"} Orphanet:498491 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:519266 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:519298 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:519351 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:522043 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:528084 {source="MONDO:relatedTo"} Orphanet:53540 {source="OMIM:268100", source="MONDO:directSiblingOf"} Orphanet:540 {source="OMIM:603552", source="MONDO:directSiblingOf"} Orphanet:540 {source="OMIM:603553", source="MONDO:directSiblingOf"} Orphanet:540 {source="OMIM:608898", source="MONDO:directSiblingOf"} Orphanet:540 {source="OMIM:613101", source="MONDO:directSiblingOf"} Orphanet:558 {source="MONDO:relatedTo", source="OMIM:610168"} Orphanet:564127 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:568 {source="OMIM:300166", source="MONDO:directSiblingOf"} Orphanet:569 {source="DOID:0060178", source="MONDO:relatedTo"} Orphanet:569 {source="MONDO:relatedTo", source="OMIM:607516"} Orphanet:576742 {source="MONDO:mondoIsBroaderThanSource"} Orphanet:588 {source="OMIM:236670", source="MONDO:relatedTo"} Orphanet:598 {source="OMIM:117000", source="MONDO:directSiblingOf"} Orphanet:600 {source="MONDO:relatedTo", source="OMIM:606070"} Orphanet:622 {source="MONDO:relatedTo", source="OMIM:277410"} Orphanet:63443 {source="MONDO:relatedTo", source="OMIM:613659"} Orphanet:635 {source="MONDO:relatedTo", source="OMIM:256700"} Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"} Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613016"} Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613017"} Orphanet:635 {source="OMIM:613013", source="MONDO:relatedTo"} Orphanet:635 {source="OMIM:613015", source="MONDO:relatedTo"} Orphanet:64280 {source="MONDO:relatedTo", source="OMIM:611136"} Orphanet:65285 {source="OMIM:158350", source="MONDO:relatedTo"} Orphanet:656 {source="MONDO:relatedTo", source="OMIM:614131"} Orphanet:656 {source="MONDO:relatedTo", source="OMIM:616002"} Orphanet:67045 {source="MONDO:relatedTo", source="OMIM:300123"} Orphanet:69061 {source="OMIM:615861", source="MONDO:relatedTo"} Orphanet:700 {source="MONDO:relatedTo", source="OMIM:104000"} Orphanet:701 {source="OMIM:104000", source="MONDO:directSiblingOf"} Orphanet:701 {source="OMIM:610753", source="MONDO:directSiblingOf"} Orphanet:71493 {source="MONDO:relatedTo", source="DOID:2224"} Orphanet:71493 {source="OMIM:187950", source="MONDO:directSiblingOf"} Orphanet:71493 {source="OMIM:601977", source="MONDO:directSiblingOf"} Orphanet:71493 {source="OMIM:614521", source="MONDO:directSiblingOf"} Orphanet:731 {source="MONDO:relatedTo", source="OMIM:263200"} Orphanet:731 {source="OMIM:617610", source="MONDO:relatedTo"} Orphanet:75249 {source="OMIM:615248", source="MONDO:relatedTo"} Orphanet:772 {source="OMIM:601539", source="MONDO:directSiblingOf"} Orphanet:77295 {source="DOID:0060794", source="OMIM:607694", source="MONDO:directSiblingOf"} Orphanet:79076 {source="OMIM:612242", source="MONDO:relatedTo"} Orphanet:791 {source="MONDO:relatedTo", source="OMIM:604393"} Orphanet:791 {source="MONDO:relatedTo", source="OMIM:613341"} Orphanet:79126 {source="MONDO:relatedTo", source="OMIM:178500"} Orphanet:79278 {source="GARD:0004527", source="OMIM:177000", source="MONDO:directSiblingOf"} Orphanet:79278 {source="OMIM:300752", source="MONDO:directSiblingOf"} Orphanet:79281 {source="OMIM:609241", source="MONDO:directSiblingOf"} Orphanet:79304 {source="OMIM:615878", source="MONDO:directSiblingOf"} Orphanet:79405 {source="OMIM:226650", source="MONDO:directSiblingOf"} Orphanet:79665 {source="OMIM:175100", source="MONDO:directSiblingOf"} Orphanet:803 {source="MONDO:relatedTo", 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{source="MONDO:relatedTo", source="OMIM:604307"} Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:610425"} Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:615188"} Orphanet:98995 {source="MONDO:relatedTo", source="OMIM:615274"} Orphanet:99001 {source="MONDO:relatedTo", source="DOID:0060863"} Orphanet:99022 {source="OMIM:607616", source="MONDO:directSiblingOf"} Orphanet:99725 {source="OMIM:102200", source="MONDO:directSiblingOf"} Orphanet:99741 {source="MONDO:relatedTo", source="OMIM:145600"} Orphanet:99789 {source="MONDO:relatedTo", source="OMIM:146400"} Orphanet:99796 {source="MONDO:relatedTo", source="OMIM:607432"} Orphanet:99818 {source="OMIM:175100", source="MONDO:directSiblingOf"} Orphanet:99828 {source="MONDO:relatedTo", source="OMIM:614371"} Orphanet:99877 {source="MONDO:relatedTo", source="OMIM:145000"} Orphanet:99878 {source="MONDO:relatedTo", source="DOID:11202"} Orphanet:99898 {source="OMIM:209950", source="MONDO:relatedTo"} Orphanet:99944 {source="OMIM:607831", source="MONDO:directSiblingOf"} Orphanet:99966 {source="MONDO:relatedTo", source="OMIM:609322"} Orphanet:99976 {source="OMIM:614266", source="MONDO:relatedTo"} ```
sabrinatoro commented 5 months ago

Also thinking out loud (and we know that Sabrina thinking out loud can be very confusing :-) ).

My main question is what does it add to have "officially excluded" mapping? I think it is useful to have it if somewhere, someone said that 2 entities map with each other, and we said that they don't. So from this perspective: yes, it is helpful to have "officially excluded mappings.

BUT, I don't know that what we currently have represents a mapping suggested by another source. (I think it mostly is, but I am confused with the source being OMIM since, to my knowledge, OMIM doesn't have mappings?) Is there a way we could check?

matentzn commented 5 months ago

OMIM most defininetly has mappings!

https://ols.monarchinitiative.org/ontologies/omim/terms?iri=https%3A%2F%2Fomim.org%2Fentry%2F600881

Same as ORDO and most other resources.

I dont think we should "import" anyones mappings. We should review and integrate them. I dont have anything specifically against non exact mappings, but I do think we should exclude the term if we do that..