From 09f959cb51ae266ec2dd4b5c59c1543d8c6b0e19 Mon Sep 17 00:00:00 2001 From: cmungall Date: Sun, 14 Oct 2018 18:24:46 -0700 Subject: [PATCH] new release --- imports/equivalencies.obo | 368 ++++- imports/equivalencies.owl | 1234 ++++++++++++++++- imports/foodon_import.obo | 80 +- imports/foodon_import.owl | 80 +- imports/hgnc_import.obo | 5 + imports/hgnc_import.owl | 9 + imports/hp_import.obo | 39 + imports/hp_import.owl | 107 +- .../reports/release/semantic-xref-pairs.tsv | 208 ++- 9 files changed, 1861 insertions(+), 269 deletions(-) diff --git a/imports/equivalencies.obo b/imports/equivalencies.obo index e7715ff9b6..c59cb3d76e 100644 --- a/imports/equivalencies.obo +++ b/imports/equivalencies.obo @@ -10636,7 +10636,7 @@ equivalent_to: MONDO:0015799 [Term] id: DOID:0060248 -equivalent_to: MONDO:0010731 +equivalent_to: MONDO:0020602 [Term] id: DOID:0060249 @@ -14206,6 +14206,10 @@ equivalent_to: MONDO:0000834 id: DOID:0080008 equivalent_to: MONDO:0005380 +[Term] +id: DOID:0080009 +equivalent_to: MONDO:0020604 + [Term] id: DOID:0080010 equivalent_to: MONDO:0000836 @@ -14214,6 +14218,10 @@ equivalent_to: MONDO:0000836 id: DOID:0080011 equivalent_to: MONDO:0000837 +[Term] +id: DOID:0080012 +equivalent_to: MONDO:0020605 + [Term] id: DOID:0080014 equivalent_to: MONDO:0019040 @@ -15390,6 +15398,54 @@ equivalent_to: MONDO:0013199 id: DOID:0080326 equivalent_to: MONDO:0024573 +[Term] +id: DOID:0080342 +equivalent_to: MONDO:0010265 + +[Term] +id: DOID:0080343 +equivalent_to: MONDO:0014804 + +[Term] +id: DOID:0080344 +equivalent_to: MONDO:0007339 + +[Term] +id: DOID:0080345 +equivalent_to: MONDO:0054740 + +[Term] +id: DOID:0080346 +equivalent_to: MONDO:0040503 + +[Term] +id: DOID:0080347 +equivalent_to: MONDO:0006288 + +[Term] +id: DOID:0080348 +equivalent_to: MONDO:0007088 + +[Term] +id: DOID:0080349 +equivalent_to: MONDO:0013056 + +[Term] +id: DOID:0080350 +equivalent_to: MONDO:0015013 + +[Term] +id: DOID:0080351 +equivalent_to: MONDO:0013038 + +[Term] +id: DOID:0080352 +equivalent_to: MONDO:0020603 + +[Term] +id: DOID:0080353 +equivalent_to: MONDO:0010358 + [Term] id: DOID:0090001 equivalent_to: MONDO:0009046 @@ -36822,6 +36878,10 @@ equivalent_to: MONDO:0005009 id: DOID:60000 equivalent_to: MONDO:0056798 +[Term] +id: DOID:60003 +equivalent_to: MONDO:0002829 + [Term] id: DOID:6001 equivalent_to: MONDO:0003728 @@ -54304,7 +54364,7 @@ equivalent_to: MONDO:0019946 [Term] id: GARD:0006189 -equivalent_to: MONDO:0010556 +equivalent_to: MONDO:0020603 [Term] id: GARD:0006191 @@ -89790,10 +89850,6 @@ equivalent_to: MONDO:0007664 id: MESH:C564235 equivalent_to: MONDO:0007663 -[Term] -id: MESH:C564237 -equivalent_to: MONDO:0007659 - [Term] id: MESH:C564241 equivalent_to: MONDO:0012035 @@ -110443,6 +110499,7 @@ equivalent_to: SCTID:123842006 [Term] id: MONDO:0000557 +equivalent_to: NCIT:C140268 equivalent_to: Orphanet:183518 equivalent_to: SCTID:763597000 @@ -110460,6 +110517,11 @@ equivalent_to: SCTID:233850007 id: MONDO:0000569 equivalent_to: SCTID:237822008 +[Term] +id: MONDO:0000577 +equivalent_to: NCIT:C35228 +equivalent_to: SCTID:63565007 + [Term] id: MONDO:0000592 equivalent_to: SCTID:10720004 @@ -116074,6 +116136,11 @@ equivalent_to: SCTID:190437000 id: MONDO:0002240 equivalent_to: SCTID:45855004 +[Term] +id: MONDO:0002242 +equivalent_to: NCIT:C27215 +equivalent_to: SCTID:86075001 + [Term] id: MONDO:0002243 equivalent_to: NCIT:C115221 @@ -116084,6 +116151,7 @@ equivalent_to: SCTID:37193007 [Term] id: MONDO:0002245 +equivalent_to: NCIT:C131634 equivalent_to: SCTID:22716005 [Term] @@ -117569,6 +117637,7 @@ equivalent_to: SCTID:126975006 [Term] id: MONDO:0002639 +equivalent_to: NCIT:C27211 equivalent_to: SCTID:80962007 [Term] @@ -122408,7 +122477,6 @@ equivalent_to: NCIT:C6206 [Term] id: MONDO:0003954 -equivalent_to: NCIT:C7752 equivalent_to: SCTID:6331000 [Term] @@ -128466,6 +128534,7 @@ equivalent_to: SCTID:111475002 id: MONDO:0005380 equivalent_to: EFO:0004259 equivalent_to: NCIT:C34880 +equivalent_to: NCIT:C35476 equivalent_to: Orphanet:399158 equivalent_to: SCTID:240196003 @@ -129305,7 +129374,7 @@ equivalent_to: SCTID:80690008 [Term] id: MONDO:0005560 equivalent_to: EFO:0005774 -equivalent_to: NCIT:C26920 +equivalent_to: NCIT:C96413 equivalent_to: SCTID:81308009 [Term] @@ -139186,10 +139255,6 @@ equivalent_to: Orphanet:3337 id: MONDO:0007601 equivalent_to: OMIM:134610 -[Term] -id: MONDO:0007602 -equivalent_to: OMIM:134700 - [Term] id: MONDO:0007603 equivalent_to: EFO:0007269 @@ -139474,10 +139539,6 @@ equivalent_to: SCTID:67155006 id: MONDO:0007657 equivalent_to: OMIM:137500 -[Term] -id: MONDO:0007659 -equivalent_to: OMIM:137560 - [Term] id: MONDO:0007660 equivalent_to: OMIM:137575 @@ -142904,7 +142965,7 @@ equivalent_to: SCTID:22567005 [Term] id: MONDO:0008323 equivalent_to: NCIT:C84827 -equivalent_to: OMIM:177200 +equivalent_to: OMIMPS:177200 equivalent_to: Orphanet:526 equivalent_to: SCTID:707747007 @@ -148216,6 +148277,10 @@ id: MONDO:0009331 equivalent_to: OMIM:235000 equivalent_to: Orphanet:2128 +[Term] +id: MONDO:0009332 +equivalent_to: NCIT:C104003 + [Term] id: MONDO:0009333 equivalent_to: OMIM:235255 @@ -148691,7 +148756,6 @@ equivalent_to: SCTID:719275009 [Term] id: MONDO:0009421 equivalent_to: OMIM:241100 -equivalent_to: OMIM:307300 equivalent_to: SCTID:48723006 [Term] @@ -154626,11 +154690,6 @@ id: MONDO:0010555 equivalent_to: OMIM:302950 equivalent_to: Orphanet:79345 -[Term] -id: MONDO:0010556 -equivalent_to: OMIM:302960 -equivalent_to: Orphanet:35173 - [Term] id: MONDO:0010557 equivalent_to: NCIT:C34469 @@ -155479,6 +155538,7 @@ equivalent_to: OMIM:312210 [Term] id: MONDO:0010720 equivalent_to: NCIT:C120192 +equivalent_to: OMIM:307300 equivalent_to: OMIM:312300 equivalent_to: Orphanet:90797 equivalent_to: SCTID:122811000119101 @@ -155535,7 +155595,6 @@ equivalent_to: OMIM:312863 [Term] id: MONDO:0010731 equivalent_to: NCIT:C131002 -equivalent_to: OMIM:312870 equivalent_to: Orphanet:373 equivalent_to: SCTID:439143004 @@ -165875,6 +165934,7 @@ equivalent_to: SCTID:717792007 id: MONDO:0012912 equivalent_to: NCIT:C129722 equivalent_to: OMIM:612463 +equivalent_to: Orphanet:665 equivalent_to: Orphanet:79445 equivalent_to: SCTID:237659007 @@ -180230,6 +180290,7 @@ equivalent_to: Orphanet:206653 [Term] id: MONDO:0016110 +equivalent_to: NCIT:C122787 equivalent_to: Orphanet:206656 [Term] @@ -188678,6 +188739,7 @@ equivalent_to: Orphanet:330032 [Term] id: MONDO:0018023 +equivalent_to: OMIM:617971 equivalent_to: Orphanet:330041 equivalent_to: SCTID:74912001 @@ -188748,6 +188810,7 @@ equivalent_to: Orphanet:331220 [Term] id: MONDO:0018037 +equivalent_to: NCIT:C3144 equivalent_to: Orphanet:331223 [Term] @@ -193177,6 +193240,7 @@ equivalent_to: SCTID:63175003 [Term] id: MONDO:0019026 +equivalent_to: NCIT:C129733 equivalent_to: Orphanet:667 equivalent_to: SCTID:367489004 @@ -198145,6 +198209,7 @@ equivalent_to: Orphanet:98363 [Term] id: MONDO:0020101 +equivalent_to: NCIT:C101218 equivalent_to: Orphanet:98364 [Term] @@ -198710,6 +198775,7 @@ equivalent_to: Orphanet:98652 [Term] id: MONDO:0020236 +equivalent_to: NCIT:C125484 equivalent_to: Orphanet:98653 [Term] @@ -200196,6 +200262,237 @@ equivalent_to: NCIT:C121572 equivalent_to: Orphanet:99994 equivalent_to: SCTID:408751001 +[Term] +id: MONDO:0020574 +equivalent_to: NCIT:C100093 + +[Term] +id: MONDO:0020575 +equivalent_to: NCIT:C111648 +equivalent_to: SCTID:251159007 + +[Term] +id: MONDO:0020576 +equivalent_to: NCIT:C112210 + +[Term] +id: MONDO:0020577 +equivalent_to: NCIT:C114801 + +[Term] +id: MONDO:0020579 +equivalent_to: NCIT:C115965 + +[Term] +id: MONDO:0020580 +equivalent_to: NCIT:C121618 + +[Term] +id: MONDO:0020581 +equivalent_to: NCIT:C121791 + +[Term] +id: MONDO:0020582 +equivalent_to: NCIT:C126493 + +[Term] +id: MONDO:0020583 +equivalent_to: NCIT:C129438 + +[Term] +id: MONDO:0020584 +equivalent_to: NCIT:C35472 + +[Term] +id: MONDO:0020585 +equivalent_to: NCIT:C131630 + +[Term] +id: MONDO:0020586 +equivalent_to: NCIT:C131738 +equivalent_to: SCTID:4320005 + +[Term] +id: MONDO:0020587 +equivalent_to: NCIT:C131739 +equivalent_to: SCTID:767713001 + +[Term] +id: MONDO:0020588 +equivalent_to: NCIT:C142783 + +[Term] +id: MONDO:0020589 +equivalent_to: NCIT:C147005 + +[Term] +id: MONDO:0020590 +equivalent_to: NCIT:C26831 +equivalent_to: SCTID:88415009 + +[Term] +id: MONDO:0020591 +equivalent_to: NCIT:C26848 +equivalent_to: SCTID:66579008 + +[Term] +id: MONDO:0020592 +equivalent_to: NCIT:C26850 +equivalent_to: SCTID:75860007 + +[Term] +id: MONDO:0020593 +equivalent_to: NCIT:C27132 + +[Term] +id: MONDO:0020594 +equivalent_to: NCIT:C27593 +equivalent_to: SCTID:398925009 + +[Term] +id: MONDO:0020595 +equivalent_to: NCIT:C27667 +equivalent_to: SCTID:734045002 + +[Term] +id: MONDO:0020596 +equivalent_to: NCIT:C27825 + +[Term] +id: MONDO:0020597 +equivalent_to: NCIT:C7752 +equivalent_to: SCTID:735082004 + +[Term] +id: MONDO:0020598 +equivalent_to: NCIT:C3214 +equivalent_to: SCTID:32230006 + +[Term] +id: MONDO:0020599 +equivalent_to: NCIT:C34347 + +[Term] +id: MONDO:0020600 +equivalent_to: NCIT:C34355 +equivalent_to: SCTID:363746003 + +[Term] +id: MONDO:0020601 +equivalent_to: NCIT:C34823 + +[Term] +id: MONDO:0020602 +equivalent_to: OMIM:312870 + +[Term] +id: MONDO:0020603 +equivalent_to: Orphanet:35173 + +[Term] +id: MONDO:0020606 +equivalent_to: SCTID:82852009 + +[Term] +id: MONDO:0020607 +equivalent_to: OMIM:177200 + +[Term] +id: MONDO:0020627 +equivalent_to: OMIMPS:617711 + +[Term] +id: MONDO:0020628 +equivalent_to: OMIM:618097 + +[Term] +id: MONDO:0020629 +equivalent_to: OMIMPS:210900 + +[Term] +id: MONDO:0020630 +equivalent_to: OMIM:617711 + +[Term] +id: MONDO:0020631 +equivalent_to: OMIM:617829 + +[Term] +id: MONDO:0020632 +equivalent_to: OMIM:618012 + +[Term] +id: MONDO:0020835 +equivalent_to: OMIM:617973 + +[Term] +id: MONDO:0020837 +equivalent_to: OMIM:617996 + +[Term] +id: MONDO:0020840 +equivalent_to: OMIM:618042 + +[Term] +id: MONDO:0020841 +equivalent_to: OMIM:618056 + +[Term] +id: MONDO:0020845 +equivalent_to: OMIM:618098 + +[Term] +id: MONDO:0020846 +equivalent_to: OMIM:618103 + +[Term] +id: MONDO:0020847 +equivalent_to: OMIM:618106 + +[Term] +id: MONDO:0020848 +equivalent_to: OMIM:618107 + +[Term] +id: MONDO:0020849 +equivalent_to: OMIM:618108 + +[Term] +id: MONDO:0020850 +equivalent_to: OMIM:618109 + +[Term] +id: MONDO:0020851 +equivalent_to: OMIM:618110 + +[Term] +id: MONDO:0020852 +equivalent_to: OMIM:618112 + +[Term] +id: MONDO:0020853 +equivalent_to: OMIM:618113 + +[Term] +id: MONDO:0020854 +equivalent_to: OMIM:618114 + +[Term] +id: MONDO:0020855 +equivalent_to: OMIM:618115 + +[Term] +id: MONDO:0020856 +equivalent_to: OMIM:618116 + +[Term] +id: MONDO:0020857 +equivalent_to: OMIM:618117 + +[Term] +id: MONDO:0020858 +equivalent_to: OMIM:618120 + [Term] id: MONDO:0021001 equivalent_to: EFO:0006513 @@ -203277,7 +203574,7 @@ equivalent_to: SCTID:446988001 [Term] id: MONDO:0024461 -equivalent_to: NCIT:C45479 +equivalent_to: NCIT:C27503 equivalent_to: SCTID:205562004 [Term] @@ -204767,6 +205064,7 @@ equivalent_to: SCTID:372109003 [Term] id: MONDO:0037858 +equivalent_to: NCIT:C117115 equivalent_to: SCTID:39929009 [Term] @@ -207916,6 +208214,14 @@ equivalent_to: NCIT:C4377 id: MONDO:0060779 equivalent_to: NCIT:C78296 +[Term] +id: MONDO:0060782 +equivalent_to: NCIT:C27274 + +[Term] +id: MONDO:0060783 +equivalent_to: NCIT:C131423 + [Term] id: MONDO:0100010 equivalent_to: EFO:1001434 @@ -220657,6 +220963,10 @@ equivalent_to: MONDO:0016474 id: http://linkedlifedata.com/resource/umls/id/C0263610 equivalent_to: MONDO:0019945 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0263627 +equivalent_to: MONDO:0010556 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0263638 equivalent_to: MONDO:0003713 @@ -241033,10 +241343,6 @@ equivalent_to: MONDO:0007663 id: http://linkedlifedata.com/resource/umls/id/C1842031 equivalent_to: MONDO:0007662 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1842035 -equivalent_to: MONDO:0007659 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1842036 equivalent_to: MONDO:0044792 @@ -271953,6 +272259,10 @@ equivalent_to: MONDO:0017847 id: http://linkedlifedata.com/resource/umls/id/CN229116 equivalent_to: MONDO:0017911 +[Term] +id: http://linkedlifedata.com/resource/umls/id/CN229208 +equivalent_to: MONDO:0019697 + [Term] id: http://linkedlifedata.com/resource/umls/id/CN229225 equivalent_to: MONDO:0019794 diff --git a/imports/equivalencies.owl b/imports/equivalencies.owl index 136b790a15..5fe4ccb069 100644 --- a/imports/equivalencies.owl +++ b/imports/equivalencies.owl @@ -25472,6 +25472,14 @@ + + + + + + + + @@ -66224,14 +66232,6 @@ - - - - - - - - @@ -128064,6 +128064,14 @@ + + + + + + + + @@ -153323,7 +153331,7 @@ - + @@ -160464,6 +160472,14 @@ + + + + + + + + @@ -160480,6 +160496,14 @@ + + + + + + + + @@ -162832,6 +162856,102 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -205696,6 +205816,14 @@ + + + + + + + + @@ -240659,7 +240787,7 @@ - + @@ -311632,14 +311760,6 @@ - - - - - - - - @@ -353484,6 +353604,7 @@ + @@ -353540,6 +353661,15 @@ + + + + + + + + + @@ -365330,7 +365460,10 @@ - + + + + @@ -365353,6 +365486,7 @@ + @@ -368228,6 +368362,7 @@ + @@ -377771,7 +377906,6 @@ - @@ -389050,6 +389184,7 @@ + @@ -390517,7 +390652,7 @@ - + @@ -407808,14 +407943,6 @@ - - - - - - - - @@ -408316,14 +408443,6 @@ - - - - - - - - @@ -414371,7 +414490,7 @@ - + @@ -423654,6 +423773,14 @@ + + + + + + + + @@ -424482,7 +424609,6 @@ - @@ -434922,10 +435048,7 @@ - - - - + @@ -436414,6 +436537,7 @@ + @@ -436510,7 +436634,6 @@ - @@ -455519,6 +455642,7 @@ + @@ -482445,6 +482569,7 @@ + @@ -498313,6 +498438,7 @@ + @@ -498439,6 +498565,7 @@ + @@ -506588,6 +506715,7 @@ + @@ -515648,6 +515776,7 @@ + @@ -516741,6 +516870,7 @@ + @@ -519496,6 +519626,469 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -528090,7 +528683,7 @@ - + @@ -531534,6 +532127,7 @@ + @@ -538106,6 +538700,22 @@ + + + + + + + + + + + + + + + + @@ -538163,6 +538773,12 @@ + + + + + + @@ -538241,6 +538857,12 @@ + + + + + + @@ -538373,6 +538995,12 @@ + + + + + + @@ -538433,6 +539061,12 @@ + + + + + + @@ -538559,6 +539193,12 @@ + + + + + + @@ -538865,6 +539505,12 @@ + + + + + + @@ -538973,6 +539619,12 @@ + + + + + + @@ -539369,6 +540021,12 @@ + + + + + + @@ -540017,6 +540675,12 @@ + + + + + + @@ -540059,6 +540723,12 @@ + + + + + + @@ -540251,6 +540921,12 @@ + + + + + + @@ -540953,6 +541629,12 @@ + + + + + + @@ -541229,6 +541911,12 @@ + + + + + + @@ -542171,6 +542859,12 @@ + + + + + + @@ -542237,6 +542931,12 @@ + + + + + + @@ -542663,6 +543363,12 @@ + + + + + + @@ -542753,6 +543459,12 @@ + + + + + + @@ -542771,6 +543483,12 @@ + + + + + + @@ -542891,6 +543609,18 @@ + + + + + + + + + + + + @@ -543317,6 +544047,12 @@ + + + + + + @@ -543425,6 +544161,12 @@ + + + + + + @@ -543503,6 +544245,12 @@ + + + + + + @@ -544265,6 +545013,12 @@ + + + + + + @@ -544355,12 +545109,24 @@ + + + + + + + + + + + + @@ -544667,12 +545433,6 @@ - - - - - - @@ -545201,6 +545961,12 @@ + + + + + + @@ -545417,12 +546183,24 @@ + + + + + + + + + + + + @@ -545531,6 +546309,12 @@ + + + + + + @@ -546065,6 +546849,12 @@ + + + + + + @@ -546299,6 +547089,12 @@ + + + + + + @@ -546377,6 +547173,12 @@ + + + + + + @@ -546503,6 +547305,12 @@ + + + + + + @@ -548147,6 +548955,12 @@ + + + + + + @@ -548483,6 +549297,12 @@ + + + + + + @@ -549479,6 +550299,12 @@ + + + + + + @@ -549515,6 +550341,12 @@ + + + + + + @@ -551123,6 +551955,12 @@ + + + + + + @@ -552437,6 +553275,12 @@ + + + + + + @@ -552977,6 +553821,18 @@ + + + + + + + + + + + + @@ -560231,12 +561087,6 @@ - - - - - - @@ -576791,6 +577641,12 @@ + + + + + + @@ -578843,6 +579699,12 @@ + + + + + + @@ -579119,6 +579981,12 @@ + + + + + + @@ -580547,6 +581415,12 @@ + + + + + + @@ -583991,12 +584865,6 @@ - - - - - - @@ -584333,12 +585201,6 @@ - - - - - - @@ -601751,12 +602613,6 @@ - - - - - - @@ -629363,6 +630219,12 @@ + + + + + + @@ -629687,6 +630549,12 @@ + + + + + + @@ -630053,6 +630921,18 @@ + + + + + + + + + + + + @@ -630137,6 +631017,12 @@ + + + + + + @@ -630191,6 +631077,12 @@ + + + + + + @@ -630245,6 +631137,12 @@ + + + + + + @@ -630269,6 +631167,12 @@ + + + + + + @@ -630395,6 +631299,96 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -645953,6 +646947,12 @@ + + + + + + @@ -651953,6 +652953,12 @@ + + + + + + @@ -653741,6 +654747,12 @@ + + + + + + @@ -655751,6 +656763,12 @@ + + + + + + @@ -659747,6 +660765,12 @@ + + + + + + @@ -665789,6 +666813,12 @@ + + + + + + @@ -666485,6 +667515,12 @@ + + + + + + @@ -679031,6 +680067,12 @@ + + + + + + @@ -679097,6 +680139,12 @@ + + + + + + @@ -679643,6 +680691,12 @@ + + + + + + @@ -681941,6 +682995,12 @@ + + + + + + @@ -683483,6 +684543,12 @@ + + + + + + @@ -684149,6 +685215,12 @@ + + + + + + @@ -684665,6 +685737,12 @@ + + + + + + @@ -744701,6 +745779,12 @@ + + + + + + diff --git a/imports/foodon_import.obo b/imports/foodon_import.obo index e3de0891c9..aa45f1053c 100644 --- a/imports/foodon_import.obo +++ b/imports/foodon_import.obo @@ -415,7 +415,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400004 name: product type, other comment: LanguaL curation note: Used only if the product does not fall under any of the major product types listed. [FDA CFSAN 1995] -xref: LANGUAL:A0004 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0004 is_a: FOODON:03400361 ! food product type property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -424,7 +424,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400148 name: milk or milk product (us cfr) def: "Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*." [] -xref: LANGUAL:A0148 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0148 is_a: FOODON:03400164 ! dairy product (us cfr) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -433,7 +433,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400164 name: dairy product (us cfr) def: "Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995]" [] -xref: LANGUAL:A0164 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0164 is_a: FOODON:03401270 ! product type, u.s. code of federal regulations, title 21 property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -442,7 +442,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400217 name: meat, poultry, seafood or related product (us cfr) def: "Products of the flesh of animals. [FDA CFSAN 1995]" [] -xref: LANGUAL:A0217 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0217 is_a: FOODON:03401270 ! product type, u.s. code of federal regulations, title 21 property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -451,7 +451,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400267 name: seafood or seafood product (us cfr) def: "Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice." [] -xref: LANGUAL:A0267 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0267 is_a: FOODON:03400217 ! meat, poultry, seafood or related product (us cfr) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -461,7 +461,7 @@ id: FOODON:03400289 name: product type, usa def: "Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995]" [] comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A0289 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0289 is_a: FOODON:03400361 ! food product type property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -471,7 +471,7 @@ id: FOODON:03400352 name: product type, international def: "Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008." [] comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A0352 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0352 is_a: FOODON:03400361 ! food product type property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -481,7 +481,7 @@ id: FOODON:03400361 name: food product type def: "A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories." [] comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A0361 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0361 is_a: BFO:0000040 ! material entity property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -492,7 +492,7 @@ id: FOODON:03400643 name: classification of food and feed commodities (codex alimentarius) def: "Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food.\n\nThe Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989).\n\nThe Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues.\n\nThe Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set." [] comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A0643 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0643 is_a: FOODON:03400352 ! product type, international property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -501,7 +501,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400644 name: a. primary food commodities of plant origin (ccpr) comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A0644 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0644 is_a: FOODON:03400643 ! classification of food and feed commodities (codex alimentarius) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -510,7 +510,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400652 name: 04 nuts and seeds (ccpr) def: "TYPE 04 - NUTS AND SEEDS\n\nNuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.\n\nThe mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed." [] -xref: LANGUAL:A0652 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0652 is_a: FOODON:03400644 ! a. primary food commodities of plant origin (ccpr) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -519,7 +519,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03400685 name: 022 tree nuts (tn) (ccpr) def: "Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed.\nThe seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit.\nThe edible portion of the nut is consumed in succulent, dried or processed forms." [] -xref: LANGUAL:A0685 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A0685 is_a: FOODON:03400652 ! 04 nuts and seeds (ccpr) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -529,7 +529,7 @@ id: FOODON:03401270 name: product type, u.s. code of federal regulations, title 21 def: "Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL." [] comment: LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. -xref: LANGUAL:A1270 +xref: http://www.langual.org/langual_thesaurus.asp?termid=A1270 is_a: FOODON:03400289 ! product type, usa property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -537,7 +537,7 @@ property_value: IAO:0000412 http://langual.org xsd:string [Term] id: FOODON:03411047 name: grain or seed-producing plant (food source) -xref: LANGUAL:B1047 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1047 is_a: FOODON:03411347 ! plant (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -546,7 +546,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411059 name: shellfish or crustacean (food source) def: "Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish]" [] -xref: LANGUAL:B1059 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1059 is_a: FOODON:00002452 union_of: FOODON:03411374 ! crustacean (food source) union_of: FOODON:03411433 ! shellfish (food source) @@ -561,7 +561,7 @@ synonym: "Dendrobranchiata Bate, 1888" NARROW [] synonym: "Natantia" NARROW [] xref: EC:No 216/2009 DCP xref: http://eol.org/pages/7184 -xref: LANGUAL:B1081 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1081 is_a: FOODON:03411237 ! shrimp (food source) property_value: hasSynonym "dendrobranchiata" xsd:string property_value: hasSynonym "natantia" xsd:string @@ -575,7 +575,7 @@ property_value: IAO:0000412 http://langual.org xsd:string [Term] id: FOODON:03411134 name: animal (mammal) (food source) -xref: LANGUAL:B1134 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1134 is_a: FOODON:03411297 ! vertebrate animal (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -586,8 +586,8 @@ name: cattle (food source) def: "Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*. [https://en.wikipedia.org/wiki/Cattle]" [] synonym: "Bos taurus Linnaeus, 1758" NARROW [] xref: http://eol.org/pages/328699 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1161 xref: ITIS:183838 -xref: LANGUAL:B1161 xref: MSW3:14200687 xref: NCBITaxon:9913 is_a: FOODON:03414374 ! bovine (food source) @@ -605,8 +605,8 @@ id: FOODON:03411201 name: cow (food source) synonym: "Bos taurus Linnaeus, 1758" NARROW [] xref: http://eol.org/pages/328699 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1201 xref: ITIS:183838 -xref: LANGUAL:B1201 xref: MSW3:14200687 xref: NCBITaxon:9913 is_a: FOODON:03411161 ! cattle (food source) @@ -618,7 +618,7 @@ property_value: IAO:0000412 http://langual.org xsd:string [Term] id: FOODON:03411215 name: algae, bacteria or fungus (food source) -xref: LANGUAL:B1215 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1215 disjoint_from: FOODON:03411297 ! vertebrate animal (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -627,7 +627,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411237 name: shrimp (food source) xref: http://eol.org/pages/2602479 -xref: LANGUAL:B1237 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1237 is_a: FOODON:03411998 ! decapod (food source) property_value: hasSynonym "caridea" xsd:string property_value: hasSynonym "crangonidae" xsd:string @@ -641,7 +641,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411261 name: fungus (food source) def: "A fungus (plural: fungi or funguses) is any member of the group of eukaryotic organisms that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. These organisms are classified as a kingdom, *Fungi*, which is separate from the other eukaryotic life kingdoms of plants and animals.[https://en.wikipedia.org/wiki/Fungus]" [] -xref: LANGUAL:B1261 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1261 is_a: FOODON:03411215 ! algae, bacteria or fungus (food source) property_value: hasSynonym "fungi" xsd:string property_value: hasSynonym "funguses" xsd:string @@ -653,7 +653,7 @@ id: FOODON:03411297 name: vertebrate animal (food source) def: "Multicellular animal, e.g., fish, meat animal or poultry." [] comment: LanguaL curation note: For a unicellular animal, use *ALGAE OR FUNGUS USED AS FOOD SOURCE*. -xref: LANGUAL:B1297 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1297 is_a: FOODON:03411564 ! food source property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -662,7 +662,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411301 name: algae (food source) def: "Unicellular and multicellular algae." [] -xref: LANGUAL:B1301 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1301 is_a: FOODON:03411215 ! algae, bacteria or fungus (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -670,7 +670,7 @@ property_value: IAO:0000412 http://langual.org xsd:string [Term] id: FOODON:03411324 name: grain plant (food source) -xref: LANGUAL:B1324 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1324 is_a: FOODON:03411047 ! grain or seed-producing plant (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -680,8 +680,8 @@ id: FOODON:03411328 name: goat (food source) synonym: "Capra hircus Linnaeus, 1758" NARROW [] xref: http://eol.org/pages/328660 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1328 xref: ITIS:180715 -xref: LANGUAL:B1328 xref: MSW3:14200776 xref: NCBITaxon:9925 is_a: FOODON:03411134 ! animal (mammal) (food source) @@ -696,7 +696,7 @@ id: FOODON:03411335 name: crab (food source) def: "Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting \"tail\", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. \n Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab]" [] xref: http://eol.org/pages/2604866 -xref: LANGUAL:B1335 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1335 is_a: FOODON:03411998 ! decapod (food source) property_value: hasSynonym "brachyura" xsd:string property_value: hasSynonym "short-tailed crabs" xsd:string @@ -709,7 +709,7 @@ id: FOODON:03411347 name: plant (food source) def: "Multicellular plants." [] comment: LanguaL curation note: For unicellular plants as well as for algae, mushrooms and yeast, use the appropriate narrower term under *ALGAE OR FUNGUS USED AS FOOD SOURCE*. -xref: LANGUAL:B1347 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1347 is_a: FOODON:03411564 ! food source property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -719,7 +719,7 @@ id: FOODON:03411374 name: crustacean (food source) def: "Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean]" [] xref: http://eol.org/pages/2598871 -xref: LANGUAL:B1374 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1374 is_a: FOODON:00002452 disjoint_from: FOODON:03411433 ! shellfish (food source) property_value: hasSynonym "crustacea" xsd:string @@ -730,7 +730,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411433 name: shellfish (food source) def: "The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. [https://en.wikipedia.org/wiki/Shellfish]" [] -xref: LANGUAL:B1433 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1433 is_a: FOODON:00002452 property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -739,7 +739,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411564 name: food source def: "Individual plant or animal from which the food product or its major ingredient is derived; also a chemical food source [FDA CFSAN 1995]." [] -xref: LANGUAL:B1564 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1564 is_a: ENVO:00010483 ! environmental material property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000412 http://langual.org xsd:string @@ -748,7 +748,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03411998 name: decapod (food source) def: "The Decapoda or decapods (literally \"ten-footed\") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda]" [] -xref: LANGUAL:B1998 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B1998 is_a: FOODON:03411374 ! crustacean (food source) property_value: hasSynonym "decapoda" xsd:string property_value: IAO:0000114 IAO:0000428 @@ -762,7 +762,7 @@ synonym: "Mollusca" NARROW [] xref: EC:No 216/2009 MOL xref: FAO ASFIS:MOL xref: http://eol.org/pages/2195 -xref: LANGUAL:B2112 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2112 is_a: FOODON:03411433 ! shellfish (food source) property_value: hasSynonym "mollusca" xsd:string property_value: IAO:0000114 IAO:0000428 @@ -773,7 +773,7 @@ id: FOODON:03412215 name: mud crab family (food source) def: "Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab]" [] xref: http://eol.org/pages/7194 -xref: LANGUAL:B2215 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2215 is_a: FOODON:03411335 ! crab (food source) property_value: hasSynonym "mud crabs" xsd:string property_value: hasSynonym "panopeidae" xsd:string @@ -789,7 +789,7 @@ property_value: IAO:0000412 http://langual.org xsd:string id: FOODON:03412345 name: lichen (food source) def: "Lichens are composite organisms consisting of a symbiotic association of a fungus (the mycobiont) with a photosynthetic partner (the photobiont or phycobiont), usually either a green alga (commonly *Trebouxia*) or cyanobacterium (commonly *Nostoc*)." [] -xref: LANGUAL:B2345 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2345 is_a: FOODON:03411215 ! algae, bacteria or fungus (food source) property_value: IAO:0000114 IAO:0000428 property_value: IAO:0000119 WIKIPEDIA:Lichen xsd:string @@ -800,8 +800,8 @@ id: FOODON:03412611 name: doe (goat) (food source) synonym: "Capra hircus Linnaeus, 1758" NARROW [] xref: http://eol.org/pages/328660 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2611 xref: ITIS:180715 -xref: LANGUAL:B2611 xref: MSW3:14200776 xref: NCBITaxon:9925 is_a: FOODON:03411328 ! goat (food source) @@ -817,8 +817,8 @@ id: FOODON:03412702 name: kid (food source) synonym: "Capra hircus Linnaeus, 1758" NARROW [] xref: http://eol.org/pages/328660 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2702 xref: ITIS:180715 -xref: LANGUAL:B2702 xref: MSW3:14200776 xref: NCBITaxon:9925 is_a: FOODON:03411328 ! goat (food source) @@ -830,7 +830,7 @@ property_value: IAO:0000412 http://langual.org xsd:string [Term] id: FOODON:03412846 name: bacteria (food source) -xref: LANGUAL:B2846 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B2846 is_a: FOODON:03411215 ! algae, bacteria or fungus (food source) intersection_of: FOODON:00001303 NCBITaxon:2 ! has taxonomic identifier Bacteria intersection_of: FOODON:00001303 NCBITaxon:2 {all_only="true"} ! has taxonomic identifier Bacteria @@ -842,7 +842,7 @@ id: FOODON:03414374 name: bovine (food source) def: "The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns." [] xref: http://eol.org/pages/2851454 -xref: LANGUAL:B4374 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B4374 is_a: FOODON:03414381 ! bovid (food source) property_value: hasSynonym "bovinae" xsd:string property_value: IAO:0000114 IAO:0000428 @@ -854,7 +854,7 @@ id: FOODON:03414381 name: bovid (food source) def: "A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin.\n\nThe family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle." [] xref: http://eol.org/pages/7687 -xref: LANGUAL:B4381 +xref: http://www.langual.org/langual_thesaurus.asp?termid=B4381 is_a: FOODON:03411134 ! animal (mammal) (food source) property_value: hasSynonym "bovidae" xsd:string property_value: IAO:0000114 IAO:0000428 diff --git a/imports/foodon_import.owl b/imports/foodon_import.owl index 67bfe31877..37c3b46ba6 100644 --- a/imports/foodon_import.owl +++ b/imports/foodon_import.owl @@ -1588,7 +1588,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different http://langual.org - LANGUAL:A0004 + http://www.langual.org/langual_thesaurus.asp?termid=A0004 LanguaL curation note: Used only if the product does not fall under any of the major product types listed. [FDA CFSAN 1995] product type, other @@ -1602,7 +1602,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*. http://langual.org - LANGUAL:A0148 + http://www.langual.org/langual_thesaurus.asp?termid=A0148 milk or milk product (us cfr) @@ -1615,7 +1615,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995] http://langual.org - LANGUAL:A0164 + http://www.langual.org/langual_thesaurus.asp?termid=A0164 dairy product (us cfr) @@ -1628,7 +1628,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Products of the flesh of animals. [FDA CFSAN 1995] http://langual.org - LANGUAL:A0217 + http://www.langual.org/langual_thesaurus.asp?termid=A0217 meat, poultry, seafood or related product (us cfr) @@ -1641,7 +1641,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice. http://langual.org - LANGUAL:A0267 + http://www.langual.org/langual_thesaurus.asp?termid=A0267 seafood or seafood product (us cfr) @@ -1654,7 +1654,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995] http://langual.org - LANGUAL:A0289 + http://www.langual.org/langual_thesaurus.asp?termid=A0289 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. product type, usa @@ -1668,7 +1668,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008. http://langual.org - LANGUAL:A0352 + http://www.langual.org/langual_thesaurus.asp?termid=A0352 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. product type, international @@ -1683,7 +1683,7 @@ Each of these 3 primitives can be composed to yield a cross-product of different A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories. http://langual.org - LANGUAL:A0361 + http://www.langual.org/langual_thesaurus.asp?termid=A0361 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. food product type @@ -1703,7 +1703,7 @@ The Codex Classification includes food commodities and animal feedstuffs for whi The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set. http://langual.org - LANGUAL:A0643 + http://www.langual.org/langual_thesaurus.asp?termid=A0643 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. classification of food and feed commodities (codex alimentarius) @@ -1716,7 +1716,7 @@ The Classification may also be appropriate for other purposes such as setting ma http://langual.org - LANGUAL:A0644 + http://www.langual.org/langual_thesaurus.asp?termid=A0644 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. a. primary food commodities of plant origin (ccpr) @@ -1734,7 +1734,7 @@ Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. http://langual.org - LANGUAL:A0652 + http://www.langual.org/langual_thesaurus.asp?termid=A0652 04 nuts and seeds (ccpr) @@ -1749,7 +1749,7 @@ The mature seeds or nuts are used as human food, for the production of beverages The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms. http://langual.org - LANGUAL:A0685 + http://www.langual.org/langual_thesaurus.asp?termid=A0685 022 tree nuts (tn) (ccpr) @@ -1762,7 +1762,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. http://langual.org - LANGUAL:A1270 + http://www.langual.org/langual_thesaurus.asp?termid=A1270 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. product type, u.s. code of federal regulations, title 21 @@ -1775,7 +1775,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B1047 + http://www.langual.org/langual_thesaurus.asp?termid=B1047 grain or seed-producing plant (food source) @@ -1796,7 +1796,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish] http://langual.org - LANGUAL:B1059 + http://www.langual.org/langual_thesaurus.asp?termid=B1059 shellfish or crustacean (food source) @@ -1811,8 +1811,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms WIKIPEDIA:Penaeus http://langual.org EC:No 216/2009 DCP - LANGUAL:B1081 http://eol.org/pages/7184 + http://www.langual.org/langual_thesaurus.asp?termid=B1081 Dendrobranchiata Bate, 1888 Natantia dendrobranchiata @@ -1831,7 +1831,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B1134 + http://www.langual.org/langual_thesaurus.asp?termid=B1134 animal (mammal) (food source) @@ -1861,9 +1861,9 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org ITIS:183838 - LANGUAL:B1161 MSW3:14200687 http://eol.org/pages/328699 + http://www.langual.org/langual_thesaurus.asp?termid=B1161 Bos taurus Linnaeus, 1758 auroch bos spp. @@ -1881,9 +1881,9 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org ITIS:183838 - LANGUAL:B1201 MSW3:14200687 http://eol.org/pages/328699 + http://www.langual.org/langual_thesaurus.asp?termid=B1201 Bos taurus Linnaeus, 1758 bos taurus domesticated cattle @@ -1912,7 +1912,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B1215 + http://www.langual.org/langual_thesaurus.asp?termid=B1215 algae, bacteria or fungus (food source) @@ -1924,8 +1924,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B1237 http://eol.org/pages/2602479 + http://www.langual.org/langual_thesaurus.asp?termid=B1237 caridea crangonidae palaemondidae @@ -1943,7 +1943,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms A fungus (plural: fungi or funguses) is any member of the group of eukaryotic organisms that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. These organisms are classified as a kingdom, *Fungi*, which is separate from the other eukaryotic life kingdoms of plants and animals.[https://en.wikipedia.org/wiki/Fungus] http://langual.org - LANGUAL:B1261 + http://www.langual.org/langual_thesaurus.asp?termid=B1261 fungi funguses fungus (food source) @@ -1958,7 +1958,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Multicellular animal, e.g., fish, meat animal or poultry. http://langual.org - LANGUAL:B1297 + http://www.langual.org/langual_thesaurus.asp?termid=B1297 LanguaL curation note: For a unicellular animal, use *ALGAE OR FUNGUS USED AS FOOD SOURCE*. vertebrate animal (food source) @@ -1972,7 +1972,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Unicellular and multicellular algae. http://langual.org - LANGUAL:B1301 + http://www.langual.org/langual_thesaurus.asp?termid=B1301 algae (food source) @@ -1984,7 +1984,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B1324 + http://www.langual.org/langual_thesaurus.asp?termid=B1324 grain plant (food source) @@ -2012,9 +2012,9 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org ITIS:180715 - LANGUAL:B1328 MSW3:14200776 http://eol.org/pages/328660 + http://www.langual.org/langual_thesaurus.asp?termid=B1328 Capra hircus Linnaeus, 1758 capra hircus goat (food source) @@ -2030,8 +2030,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab] http://langual.org - LANGUAL:B1335 http://eol.org/pages/2604866 + http://www.langual.org/langual_thesaurus.asp?termid=B1335 brachyura short-tailed crabs true crabs @@ -2047,7 +2047,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Multicellular plants. http://langual.org - LANGUAL:B1347 + http://www.langual.org/langual_thesaurus.asp?termid=B1347 LanguaL curation note: For unicellular plants as well as for algae, mushrooms and yeast, use the appropriate narrower term under *ALGAE OR FUNGUS USED AS FOOD SOURCE*. plant (food source) @@ -2062,8 +2062,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean] http://langual.org - LANGUAL:B1374 http://eol.org/pages/2598871 + http://www.langual.org/langual_thesaurus.asp?termid=B1374 crustacea crustacean (food source) @@ -2077,7 +2077,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. [https://en.wikipedia.org/wiki/Shellfish] http://langual.org - LANGUAL:B1433 + http://www.langual.org/langual_thesaurus.asp?termid=B1433 shellfish (food source) @@ -2090,7 +2090,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Individual plant or animal from which the food product or its major ingredient is derived; also a chemical food source [FDA CFSAN 1995]. http://langual.org - LANGUAL:B1564 + http://www.langual.org/langual_thesaurus.asp?termid=B1564 food source @@ -2103,7 +2103,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda] http://langual.org - LANGUAL:B1998 + http://www.langual.org/langual_thesaurus.asp?termid=B1998 decapoda decapod (food source) @@ -2119,8 +2119,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org EC:No 216/2009 MOL FAO ASFIS:MOL - LANGUAL:B2112 http://eol.org/pages/2195 + http://www.langual.org/langual_thesaurus.asp?termid=B2112 Mollusca mollusca molluscs (food source) @@ -2135,8 +2135,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab] http://langual.org - LANGUAL:B2215 http://eol.org/pages/7194 + http://www.langual.org/langual_thesaurus.asp?termid=B2215 mud crabs panopeidae pebble crabs @@ -2157,7 +2157,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms Lichens are composite organisms consisting of a symbiotic association of a fungus (the mycobiont) with a photosynthetic partner (the photobiont or phycobiont), usually either a green alga (commonly *Trebouxia*) or cyanobacterium (commonly *Nostoc*). WIKIPEDIA:Lichen http://langual.org - LANGUAL:B2345 + http://www.langual.org/langual_thesaurus.asp?termid=B2345 lichen (food source) @@ -2185,9 +2185,9 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org ITIS:180715 - LANGUAL:B2611 MSW3:14200776 http://eol.org/pages/328660 + http://www.langual.org/langual_thesaurus.asp?termid=B2611 Capra hircus Linnaeus, 1758 capra hircus nanny goat @@ -2218,9 +2218,9 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org ITIS:180715 - LANGUAL:B2702 MSW3:14200776 http://eol.org/pages/328660 + http://www.langual.org/langual_thesaurus.asp?termid=B2702 Capra hircus Linnaeus, 1758 kid (food source) @@ -2247,7 +2247,7 @@ The edible portion of the nut is consumed in succulent, dried or processed forms http://langual.org - LANGUAL:B2846 + http://www.langual.org/langual_thesaurus.asp?termid=B2846 bacteria (food source) @@ -2261,8 +2261,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. WIKIPEDIA:Bovinae http://langual.org - LANGUAL:B4374 http://eol.org/pages/2851454 + http://www.langual.org/langual_thesaurus.asp?termid=B4374 bovinae bovine (food source) @@ -2279,8 +2279,8 @@ The edible portion of the nut is consumed in succulent, dried or processed forms The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. WIKIPEDIA:Bovidae http://langual.org - LANGUAL:B4381 http://eol.org/pages/7687 + http://www.langual.org/langual_thesaurus.asp?termid=B4381 bovidae bovid (food source) diff --git a/imports/hgnc_import.obo b/imports/hgnc_import.obo index 8f74081de2..1f43cff7f7 100644 --- a/imports/hgnc_import.obo +++ b/imports/hgnc_import.obo @@ -8706,6 +8706,11 @@ id: http://identifiers.org/hgnc/2514 name: CTNNB1 is_a: SO:0001217 +[Term] +id: http://identifiers.org/hgnc/2515 +name: CTNND1 +is_a: SO:0001217 + [Term] id: http://identifiers.org/hgnc/25151 name: ADAT3 diff --git a/imports/hgnc_import.owl b/imports/hgnc_import.owl index b5770257bf..a1948586a3 100644 --- a/imports/hgnc_import.owl +++ b/imports/hgnc_import.owl @@ -15690,6 +15690,15 @@ + + + + + CTNND1 + + + + diff --git a/imports/hp_import.obo b/imports/hp_import.obo index 893f8300e6..7673563e42 100644 --- a/imports/hp_import.obo +++ b/imports/hp_import.obo @@ -4003,6 +4003,15 @@ synonym: "X-linked recessive" EXACT [HPO:skoehler] xref: UMLS:C1845977 is_a: HP:0001417 ! X-linked inheritance +[Term] +id: HP:0001423 +name: X-linked dominant inheritance +namespace: human_phenotype +def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] +synonym: "X-linked dominant" EXACT [HPO:skoehler] +xref: UMLS:C1847879 +is_a: HP:0001417 ! X-linked inheritance + [Term] id: HP:0001433 name: Hepatosplenomegaly @@ -7581,6 +7590,23 @@ xref: SNOMEDCT_US:8915006 xref: UMLS:C0266013 is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts +[Term] +id: HP:0003198 +name: Myopathy +namespace: human_phenotype +alt_id: HP:0003569 +alt_id: HP:0003705 +alt_id: HP:0003742 +alt_id: HP:0003802 +def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] +comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. +synonym: "Muscle tissue disease" EXACT layperson [ORCID:0000-0001-5208-3432] +synonym: "Myopathic changes" EXACT [] +xref: MSH:D009135 +xref: SNOMEDCT_US:129565002 +xref: UMLS:C0026848 +is_a: HP:0011805 ! Abnormality of muscle morphology + [Term] id: HP:0003202 name: Skeletal muscle atrophy @@ -12481,6 +12507,19 @@ is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:41:33Z +[Term] +id: HP:0012828 +name: Severe +namespace: human_phenotype +def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [HPO:probinson] +comment: PATO:0000396, severe. +synonym: "Severe" EXACT layperson [] +xref: SNOMEDCT_US:24484000 +xref: UMLS:C0205082 +is_a: HP:0012824 ! Severity +created_by: peter +creation_date: 2014-06-06T07:03:17Z + [Term] id: HP:0012862 name: Abnormal germ cell morphology diff --git a/imports/hp_import.owl b/imports/hp_import.owl index c5edbf0756..95f785902b 100644 --- a/imports/hp_import.owl +++ b/imports/hp_import.owl @@ -10557,6 +10557,32 @@ + + + + + A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. + UMLS:C1847879 + X-linked dominant + human_phenotype + HP:0001423 + X-linked dominant inheritance + + + + + A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. + HPO:curators + + + + + X-linked dominant + HPO:skoehler + + + + @@ -13324,26 +13350,26 @@ - - Palpitations - + + A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. + HPO:probinson - Skipped heart beat + Missed heart beat - - A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. - HPO:probinson + + Palpitations + - Missed heart beat + Skipped heart beat @@ -19060,6 +19086,41 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + + + + A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. + HP:0003569 + HP:0003705 + HP:0003742 + HP:0003802 + MSH:D009135 + SNOMEDCT_US:129565002 + UMLS:C0026848 + Muscle tissue disease + Myopathic changes + human_phenotype + HP:0003198 + The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. + Myopathy + + + + + A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. + HPO:probinson + + + + + Muscle tissue disease + ORCID:0000-0001-5208-3432 + + + + + @@ -29755,6 +29816,36 @@ and two otolith organs that are sensitive to linear acceleration. + + + + + Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. + peter + 2014-06-06T07:03:17Z + SNOMEDCT_US:24484000 + UMLS:C0205082 + Severe + human_phenotype + HP:0012828 + PATO:0000396, severe. + Severe + + + + + Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. + HPO:probinson + + + + + Severe + + + + + diff --git a/src/ontology/reports/release/semantic-xref-pairs.tsv b/src/ontology/reports/release/semantic-xref-pairs.tsv index 9396ed4e2b..0fb39c009f 100644 --- a/src/ontology/reports/release/semantic-xref-pairs.tsv +++ b/src/ontology/reports/release/semantic-xref-pairs.tsv @@ -1296,7 +1296,7 @@ MONDO:0000455 cone dystrophy DOID DOID:0050795 one_to_one MONDO:0000455 cone dystrophy GARD GARD:0011897 one_to_one MONDO:0000455 cone dystrophy ICD10 ICD10:H35.5 inexact MONDO:0000455 cone dystrophy ICD9 ICD9:362.75 inexact -MONDO:0000455 cone dystrophy MONDO MONDO:0004589,MONDO:0020242 subclass +MONDO:0000455 cone dystrophy MONDO MONDO:0020242 subclass MONDO:0000455 cone dystrophy Orphanet Orphanet:1871 one_to_one MONDO:0000455 cone dystrophy SCTID SCTID:312917007 one_to_one MONDO:0000455 cone dystrophy UMLS UMLS:C0730290 one_to_one @@ -36475,9 +36475,6 @@ MONDO:0006561 eyelid hypopigmentation MONDO MONDO:0000941 excluded_subClassOf MONDO:0006561 eyelid hypopigmentation MONDO MONDO:0003382,MONDO:0006600 subclass MONDO:0006561 eyelid hypopigmentation SCTID SCTID:68210006 one_to_one MONDO:0006561 eyelid hypopigmentation UMLS UMLS:C0155212 one_to_one -MONDO:0006562 incontinentia pigmenti achromians EFO EFO:1000716 one_to_one -MONDO:0006562 incontinentia pigmenti achromians MONDO MONDO:0005093 subclass -MONDO:0006562 incontinentia pigmenti achromians SCTID SCTID:218358001 one_to_one MONDO:0006563 inverted follicular keratosis DOID DOID:6945 one_to_one MONDO:0006563 inverted follicular keratosis EFO EFO:1000717 one_to_one MONDO:0006563 inverted follicular keratosis ICD9 ICD9:264.8 inexact @@ -40394,10 +40391,10 @@ MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopeci MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia Orphanet Orphanet:1010 one_to_one MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia SCTID SCTID:719518004 one_to_one MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of -MONDO:0007084 alopecia, familial focal MESH MESH:C566301 one_to_one -MONDO:0007084 alopecia, familial focal MONDO MONDO:0000005 subclass -MONDO:0007084 alopecia, familial focal OMIM OMIM:104110 one_to_one -MONDO:0007084 alopecia, familial focal UMLS UMLS:C1863092 one_to_one +MONDO:0007084 familial focal alopecia MESH MESH:C566301 one_to_one +MONDO:0007084 familial focal alopecia MONDO MONDO:0000005 subclass +MONDO:0007084 familial focal alopecia OMIM OMIM:104110 one_to_one +MONDO:0007084 familial focal alopecia UMLS UMLS:C1863092 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome GARD GARD:0000607 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MESH MESH:C537057 one_to_one @@ -40567,22 +40564,22 @@ MONDO:0007108 anal canal carcinoma OMIM OMIM:105580 one_to_one MONDO:0007108 anal canal carcinoma Orphanet Orphanet:424013 one_to_one MONDO:0007108 anal canal carcinoma SCTID SCTID:285310000 one_to_one MONDO:0007108 anal canal carcinoma UBERON UBERON:0000159 disease_has_location -MONDO:0007109 congenital dyserythropoietic anemia type III GARD GARD:0002002 one_to_one -MONDO:0007109 congenital dyserythropoietic anemia type III ICD10 ICD10:D64.4 inexact -MONDO:0007109 congenital dyserythropoietic anemia type III ICD9 ICD9:285.8 inexact -MONDO:0007109 congenital dyserythropoietic anemia type III MONDO MONDO:0019403 subclass -MONDO:0007109 congenital dyserythropoietic anemia type III OMIM OMIM:105600 one_to_one -MONDO:0007109 congenital dyserythropoietic anemia type III Orphanet Orphanet:98870 one_to_one -MONDO:0007109 congenital dyserythropoietic anemia type III SCTID SCTID:26409005 one_to_one -MONDO:0007109 congenital dyserythropoietic anemia type III UMLS UMLS:C0271934 one_to_one +MONDO:0007109 congenital dyserythropoietic anemia type 3 GARD GARD:0002002 one_to_one +MONDO:0007109 congenital dyserythropoietic anemia type 3 ICD10 ICD10:D64.4 inexact +MONDO:0007109 congenital dyserythropoietic anemia type 3 ICD9 ICD9:285.8 inexact +MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO MONDO:0019403 subclass +MONDO:0007109 congenital dyserythropoietic anemia type 3 OMIM OMIM:105600 one_to_one +MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet Orphanet:98870 one_to_one +MONDO:0007109 congenital dyserythropoietic anemia type 3 SCTID SCTID:26409005 one_to_one +MONDO:0007109 congenital dyserythropoietic anemia type 3 UMLS UMLS:C0271934 one_to_one MONDO:0007110 Diamond-Blackfan anemia 1 MONDO MONDO:0015253 subclass MONDO:0007110 Diamond-Blackfan anemia 1 OMIM OMIM:105650 one_to_one MONDO:0007110 Diamond-Blackfan anemia 1 UMLS UMLS:C2676137 one_to_one MONDO:0007110 Diamond-Blackfan anemia 1 http http://identifiers.org/hgnc/10402 disease_has_basis_in_dysfunction_of -MONDO:0007111 ANIB1 MESH MESH:C566284 one_to_one -MONDO:0007111 ANIB1 MONDO MONDO:0016483 subclass -MONDO:0007111 ANIB1 OMIM OMIM:105800 one_to_one -MONDO:0007111 ANIB1 UMLS UMLS:C1862932 one_to_one +MONDO:0007111 aneurysm, intracranial berry type 1 MESH MESH:C566284 one_to_one +MONDO:0007111 aneurysm, intracranial berry type 1 MONDO MONDO:0016483 subclass +MONDO:0007111 aneurysm, intracranial berry type 1 OMIM OMIM:105800 one_to_one +MONDO:0007111 aneurysm, intracranial berry type 1 UMLS UMLS:C1862932 one_to_one MONDO:0007112 interventricular septum aneurysm ICD10 ICD10:Q21.0 inexact MONDO:0007112 interventricular septum aneurysm MESH MESH:C563239 one_to_one MONDO:0007112 interventricular septum aneurysm MONDO MONDO:0018771 subclass @@ -43997,7 +43994,7 @@ MONDO:0007640 Sorsby's fundus dystrophy DOID DOID:0090114 one_to_one MONDO:0007640 Sorsby's fundus dystrophy GARD GARD:0010511 one_to_one MONDO:0007640 Sorsby's fundus dystrophy ICD10 ICD10:H35.5 inexact MONDO:0007640 Sorsby's fundus dystrophy MESH MESH:C564992 one_to_one -MONDO:0007640 Sorsby's fundus dystrophy MONDO MONDO:0004589,MONDO:0020244 subclass +MONDO:0007640 Sorsby's fundus dystrophy MONDO MONDO:0020244 subclass MONDO:0007640 Sorsby's fundus dystrophy OMIM OMIM:136900 one_to_one MONDO:0007640 Sorsby's fundus dystrophy Orphanet Orphanet:59181 one_to_one MONDO:0007640 Sorsby's fundus dystrophy SCTID SCTID:193410003 one_to_one @@ -44637,8 +44634,8 @@ MONDO:0007739 Huntington disease GARD GARD:0006677 one_to_one MONDO:0007739 Huntington disease ICD10 ICD10:G10 inexact MONDO:0007739 Huntington disease ICD9 ICD9:333.4 one_to_one MONDO:0007739 Huntington disease KEGG KEGG:05016 one_to_one -MONDO:0007739 Huntington disease MONDO MONDO:0001627 disease_has_feature -MONDO:0007739 Huntington disease MONDO MONDO:0000167,MONDO:0004884,MONDO:0017646,MONDO:0020258,MONDO:0021037 subclass +MONDO:0007739 Huntington disease MONDO MONDO:0001627,MONDO:0020258 disease_has_feature +MONDO:0007739 Huntington disease MONDO MONDO:0000167,MONDO:0017646,MONDO:0021037 subclass MONDO:0007739 Huntington disease MedDRA MedDRA:10070668 one_to_one MONDO:0007739 Huntington disease NCIT NCIT:C82342 one_to_one MONDO:0007739 Huntington disease OMIM OMIM:143100 one_to_one @@ -46550,7 +46547,7 @@ MONDO:0008025 neuronopathy, distal hereditary motor, type 2A UMLS UMLS:C1834692 MONDO:0008025 neuronopathy, distal hereditary motor, type 2A http http://identifiers.org/hgnc/30171 disease_has_basis_in_dysfunction_of MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures ICD10 ICD10:G12.1 inexact MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MESH MESH:C563560 one_to_one -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO MONDO:0001516,MONDO:0018190,MONDO:0024237 subclass +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO MONDO:0018190,MONDO:0024237 subclass MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures OMIM OMIM:158600 one_to_one MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Orphanet Orphanet:209341 one_to_one MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures UMLS UMLS:C1834690 one_to_one @@ -48546,11 +48543,10 @@ MONDO:0008323 Liddle syndrome MESH MESH:D056929 one_to_one MONDO:0008323 Liddle syndrome MONDO MONDO:0002254,MONDO:0006510,MONDO:0015512 subclass MONDO:0008323 Liddle syndrome MedDRA MedDRA:10037113,MedDRA:10052313 inexact MONDO:0008323 Liddle syndrome NCIT NCIT:C84827 one_to_one -MONDO:0008323 Liddle syndrome OMIM OMIM:177200 one_to_one +MONDO:0008323 Liddle syndrome OMIMPS OMIMPS:177200 one_to_one MONDO:0008323 Liddle syndrome Orphanet Orphanet:526 one_to_one MONDO:0008323 Liddle syndrome SCTID SCTID:707747007 one_to_one MONDO:0008323 Liddle syndrome UMLS UMLS:C0221043 one_to_one -MONDO:0008323 Liddle syndrome http http://identifiers.org/hgnc/10600,http://identifiers.org/hgnc/10602 disease_has_basis_in_dysfunction_of MONDO:0008324 pseudoarthrogryposis MESH MESH:C566753 one_to_one MONDO:0008324 pseudoarthrogryposis MONDO MONDO:0003847 subclass MONDO:0008324 pseudoarthrogryposis OMIM OMIM:177300 one_to_one @@ -49397,7 +49393,7 @@ MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type MONDO MONDO:0001 MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type OMIM OMIM:182970 one_to_one MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type UMLS UMLS:C1866783 one_to_one MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant ICD10 ICD10:G12.1 inexact -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO MONDO:0001516,MONDO:0016224,MONDO:0024237 subclass +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO MONDO:0016224,MONDO:0024237 subclass MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant OMIM OMIM:182980 one_to_one MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant Orphanet Orphanet:209335 one_to_one MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant UMLS UMLS:CN200940 one_to_one @@ -52313,7 +52309,7 @@ MONDO:0008876 Bloom syndrome GARD GARD:0000915 one_to_one MONDO:0008876 Bloom syndrome ICD10 ICD10:Q82.2 inexact MONDO:0008876 Bloom syndrome ICD9 ICD9:757.39 inexact MONDO:0008876 Bloom syndrome MESH MESH:D001816 one_to_one -MONDO:0008876 Bloom syndrome MONDO MONDO:0006025,MONDO:0009332,MONDO:0015327,MONDO:0015329,MONDO:0015549,MONDO:0015707,MONDO:0015945,MONDO:0015950,MONDO:0015951,MONDO:0015960,MONDO:0019044,MONDO:0019052,MONDO:0019304 subclass +MONDO:0008876 Bloom syndrome MONDO MONDO:0006025,MONDO:0009332,MONDO:0015327,MONDO:0015329,MONDO:0015549,MONDO:0015945,MONDO:0015950,MONDO:0015951,MONDO:0015960,MONDO:0019044,MONDO:0019052,MONDO:0019304,MONDO:0020629 subclass MONDO:0008876 Bloom syndrome NCIT NCIT:C2903 one_to_one MONDO:0008876 Bloom syndrome OMIM OMIM:210900 one_to_one MONDO:0008876 Bloom syndrome Orphanet Orphanet:125 one_to_one @@ -54177,17 +54173,17 @@ MONDO:0009133 dysequilibrium syndrome NCIT NCIT:C114781 one_to_one MONDO:0009133 dysequilibrium syndrome OMIMPS OMIMPS:224050 one_to_one MONDO:0009133 dysequilibrium syndrome Orphanet Orphanet:1766 one_to_one MONDO:0009133 dysequilibrium syndrome SCTID SCTID:230782004 one_to_one -MONDO:0009134 congenital dyserythropoietic anemia type II GARD GARD:0002001 one_to_one -MONDO:0009134 congenital dyserythropoietic anemia type II ICD10 ICD10:D64.4 inexact -MONDO:0009134 congenital dyserythropoietic anemia type II ICD9 ICD9:285.8 inexact -MONDO:0009134 congenital dyserythropoietic anemia type II MONDO MONDO:0017749,MONDO:0019403 subclass -MONDO:0009134 congenital dyserythropoietic anemia type II OMIM OMIM:224100 one_to_one -MONDO:0009134 congenital dyserythropoietic anemia type II Orphanet Orphanet:98873 one_to_one -MONDO:0009134 congenital dyserythropoietic anemia type II SCTID SCTID:68870007 one_to_one -MONDO:0009134 congenital dyserythropoietic anemia type II http http://identifiers.org/hgnc/10702 disease_has_basis_in_dysfunction_of -MONDO:0009135 anemia, congenital dyserythropoietic, type Ia MONDO MONDO:0020337 subclass -MONDO:0009135 anemia, congenital dyserythropoietic, type Ia OMIM OMIM:224120 one_to_one -MONDO:0009135 anemia, congenital dyserythropoietic, type Ia http http://identifiers.org/hgnc/1713 disease_has_basis_in_dysfunction_of +MONDO:0009134 congenital dyserythropoietic anemia type 2 GARD GARD:0002001 one_to_one +MONDO:0009134 congenital dyserythropoietic anemia type 2 ICD10 ICD10:D64.4 inexact +MONDO:0009134 congenital dyserythropoietic anemia type 2 ICD9 ICD9:285.8 inexact +MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO MONDO:0017749,MONDO:0019403 subclass +MONDO:0009134 congenital dyserythropoietic anemia type 2 OMIM OMIM:224100 one_to_one +MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet Orphanet:98873 one_to_one +MONDO:0009134 congenital dyserythropoietic anemia type 2 SCTID SCTID:68870007 one_to_one +MONDO:0009134 congenital dyserythropoietic anemia type 2 http http://identifiers.org/hgnc/10702 disease_has_basis_in_dysfunction_of +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a MONDO MONDO:0020337 subclass +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a OMIM OMIM:224120 one_to_one +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a http http://identifiers.org/hgnc/1713 disease_has_basis_in_dysfunction_of MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 DOID DOID:0070015 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 GARD GARD:0006300 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MESH MESH:C565611 one_to_one @@ -58081,7 +58077,7 @@ MONDO:0009669 Werdnig-Hoffmann disease DOID DOID:0060160,DOID:13137 inexact MONDO:0009669 Werdnig-Hoffmann disease GARD GARD:0007883 one_to_one MONDO:0009669 Werdnig-Hoffmann disease ICD10 ICD10:G12.0 inexact MONDO:0009669 Werdnig-Hoffmann disease ICD9 ICD9:335.0,ICD9:335.11 inexact -MONDO:0009669 Werdnig-Hoffmann disease MONDO MONDO:0001516,MONDO:0015952,MONDO:0019079 subclass +MONDO:0009669 Werdnig-Hoffmann disease MONDO MONDO:0015952,MONDO:0019079 subclass MONDO:0009669 Werdnig-Hoffmann disease NCIT NCIT:C98670 one_to_one MONDO:0009669 Werdnig-Hoffmann disease OMIM OMIM:253300 one_to_one MONDO:0009669 Werdnig-Hoffmann disease Orphanet Orphanet:83330 one_to_one @@ -62690,6 +62686,7 @@ MONDO:0010301 THCYTX UMLS UMLS:C1845888 one_to_one MONDO:0010302 Ito hypomelanosis DOID DOID:3156 one_to_one MONDO:0010302 Ito hypomelanosis GARD GARD:0002992 one_to_one MONDO:0010302 Ito hypomelanosis ICD10 ICD10:Q87.8 inexact +MONDO:0010302 Ito hypomelanosis MONDO MONDO:0006562 one_to_one MONDO:0010302 Ito hypomelanosis MONDO MONDO:0002320,MONDO:0015651,MONDO:0019287,MONDO:0019290,MONDO:0020276 subclass MONDO:0010302 Ito hypomelanosis OMIM OMIM:300337 one_to_one MONDO:0010302 Ito hypomelanosis Orphanet Orphanet:435 one_to_one @@ -64248,7 +64245,7 @@ MONDO:0010557 choroideremia http http://identifiers.org/hgnc/1940 disease_has_ba MONDO:0010558 choroideremia-deafness-obesity syndrome GARD GARD:0000369 one_to_one MONDO:0010558 choroideremia-deafness-obesity syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010558 choroideremia-deafness-obesity syndrome MESH MESH:C537793 one_to_one -MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO MONDO:0004589,MONDO:0016565,MONDO:0019052,MONDO:0019589,MONDO:0020241 subclass +MONDO:0010558 choroideremia-deafness-obesity syndrome MONDO MONDO:0016565,MONDO:0019052,MONDO:0019589,MONDO:0020241 subclass MONDO:0010558 choroideremia-deafness-obesity syndrome OMIM OMIM:303110 one_to_one MONDO:0010558 choroideremia-deafness-obesity syndrome Orphanet Orphanet:1435 one_to_one MONDO:0010558 choroideremia-deafness-obesity syndrome SCTID SCTID:717761005 one_to_one @@ -75949,7 +75946,7 @@ MONDO:0012422 type 1 diabetes mellitus 19 OMIM OMIM:610155 one_to_one MONDO:0012422 type 1 diabetes mellitus 19 UMLS UMLS:C1857808 one_to_one MONDO:0012423 MORM syndrome GARD GARD:0010121 one_to_one MONDO:0012423 MORM syndrome MESH MESH:C536984 one_to_one -MONDO:0012423 MORM syndrome MONDO MONDO:0004589,MONDO:0016565,MONDO:0019052,MONDO:0019118 subclass +MONDO:0012423 MORM syndrome MONDO MONDO:0016565,MONDO:0019052,MONDO:0019118 subclass MONDO:0012423 MORM syndrome OMIM OMIM:610156 one_to_one MONDO:0012423 MORM syndrome Orphanet Orphanet:75858 one_to_one MONDO:0012423 MORM syndrome SCTID SCTID:715628009 one_to_one @@ -81363,13 +81360,13 @@ MONDO:0013354 spastic ataxia 4 OMIM OMIM:613672 one_to_one MONDO:0013354 spastic ataxia 4 Orphanet Orphanet:254343 one_to_one MONDO:0013354 spastic ataxia 4 UMLS UMLS:C3150925,UMLS:CN230090 inexact MONDO:0013354 spastic ataxia 4 http http://identifiers.org/hgnc/25532 disease_has_basis_in_dysfunction_of -MONDO:0013355 congenital dyserythropoietic anemia type IV ICD10 ICD10:D64.4 inexact -MONDO:0013355 congenital dyserythropoietic anemia type IV MONDO MONDO:0019403 subclass -MONDO:0013355 congenital dyserythropoietic anemia type IV OMIM OMIM:613673 one_to_one -MONDO:0013355 congenital dyserythropoietic anemia type IV Orphanet Orphanet:293825 one_to_one -MONDO:0013355 congenital dyserythropoietic anemia type IV SCTID SCTID:719453009 one_to_one -MONDO:0013355 congenital dyserythropoietic anemia type IV UMLS UMLS:C3150926 one_to_one -MONDO:0013355 congenital dyserythropoietic anemia type IV http http://identifiers.org/hgnc/6345 disease_has_basis_in_dysfunction_of +MONDO:0013355 congenital dyserythropoietic anemia type 4 ICD10 ICD10:D64.4 inexact +MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO MONDO:0019403 subclass +MONDO:0013355 congenital dyserythropoietic anemia type 4 OMIM OMIM:613673 one_to_one +MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet Orphanet:293825 one_to_one +MONDO:0013355 congenital dyserythropoietic anemia type 4 SCTID SCTID:719453009 one_to_one +MONDO:0013355 congenital dyserythropoietic anemia type 4 UMLS UMLS:C3150926 one_to_one +MONDO:0013355 congenital dyserythropoietic anemia type 4 http http://identifiers.org/hgnc/6345 disease_has_basis_in_dysfunction_of MONDO:0013356 vesicoureteral reflux 3 MONDO MONDO:0006007,MONDO:0017329 subclass MONDO:0013356 vesicoureteral reflux 3 OMIM OMIM:613674 one_to_one MONDO:0013356 vesicoureteral reflux 3 UMLS UMLS:C3150927 one_to_one @@ -85017,7 +85014,7 @@ MONDO:0014024 hereditary spastic paraplegia 43 SCTID SCTID:764736001 one_to_one MONDO:0014024 hereditary spastic paraplegia 43 UMLS UMLS:C2680446 one_to_one MONDO:0014024 hereditary spastic paraplegia 43 http http://identifiers.org/hgnc/25443 disease_has_basis_in_dysfunction_of MONDO:0014025 lower motor neuron syndrome with late-adult onset ICD10 ICD10:G12.1 inexact -MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO MONDO:0001516,MONDO:0016224,MONDO:0024237 subclass +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO MONDO:0016224,MONDO:0024237 subclass MONDO:0014025 lower motor neuron syndrome with late-adult onset OMIM OMIM:615048 one_to_one MONDO:0014025 lower motor neuron syndrome with late-adult onset Orphanet Orphanet:276435 one_to_one MONDO:0014025 lower motor neuron syndrome with late-adult onset UMLS UMLS:C3554398 one_to_one @@ -85362,12 +85359,12 @@ MONDO:0014090 polydactyly, postaxial, type A6 MONDO MONDO:0019673 subclass MONDO:0014090 polydactyly, postaxial, type A6 OMIM OMIM:615226 one_to_one MONDO:0014090 polydactyly, postaxial, type A6 UMLS UMLS:C3808889 one_to_one MONDO:0014090 polydactyly, postaxial, type A6 http http://identifiers.org/hgnc/12926 disease_has_basis_in_dysfunction_of -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 DOID DOID:0060333 one_to_one -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 ICD10 ICD10:E88.8 inexact -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 MONDO MONDO:0000066,MONDO:0014471 subclass -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 OMIM OMIM:615228 one_to_one -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 UMLS UMLS:C3808899 one_to_one -MONDO:0014091 mitochondrial complex v (ATP synthase) deficiency nuclear type 4 http http://identifiers.org/hgnc/823 disease_has_basis_in_dysfunction_of +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID DOID:0060333 one_to_one +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ICD10 ICD10:E88.8 inexact +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 MONDO MONDO:0000066,MONDO:0014471 subclass +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 OMIM OMIM:615228 one_to_one +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 UMLS UMLS:C3808899 one_to_one +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 http http://identifiers.org/hgnc/823 disease_has_basis_in_dysfunction_of MONDO:0014092 schizophrenia 18 DOID DOID:0070093 one_to_one MONDO:0014092 schizophrenia 18 MONDO MONDO:0005090 subclass MONDO:0014092 schizophrenia 18 OMIM OMIM:615232 one_to_one @@ -85537,7 +85534,7 @@ MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 http http://identifiers.org/hgnc/15685 disease_has_basis_in_dysfunction_of MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures GARD GARD:0013222 one_to_one MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures ICD10 ICD10:G12.1 inexact -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO MONDO:0001516,MONDO:0018190,MONDO:0024237 subclass +MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO MONDO:0018190,MONDO:0024237 subclass MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures OMIM OMIM:615290 one_to_one MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Orphanet Orphanet:363454 one_to_one MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures UMLS UMLS:C3809049 one_to_one @@ -86426,10 +86423,10 @@ MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly OMIM OMIM:615630 one_to_one MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly UMLS UMLS:C3810175 one_to_one MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly http http://identifiers.org/hgnc/30391 disease_has_basis_in_dysfunction_of -MONDO:0014285 anemia, congenital dyserythropoietic, type IB MONDO MONDO:0020337 subclass -MONDO:0014285 anemia, congenital dyserythropoietic, type IB OMIM OMIM:615631 one_to_one -MONDO:0014285 anemia, congenital dyserythropoietic, type IB UMLS UMLS:C3810185 one_to_one -MONDO:0014285 anemia, congenital dyserythropoietic, type IB http http://identifiers.org/hgnc/26929 disease_has_basis_in_dysfunction_of +MONDO:0014285 congenital dyserythropoietic anemia type type 1B MONDO MONDO:0020337 subclass +MONDO:0014285 congenital dyserythropoietic anemia type type 1B OMIM OMIM:615631 one_to_one +MONDO:0014285 congenital dyserythropoietic anemia type type 1B UMLS UMLS:C3810185 one_to_one +MONDO:0014285 congenital dyserythropoietic anemia type type 1B http http://identifiers.org/hgnc/26929 disease_has_basis_in_dysfunction_of MONDO:0014286 neuropathy, hereditary sensory, type 1F DOID DOID:0070154 one_to_one MONDO:0014286 neuropathy, hereditary sensory, type 1F MONDO MONDO:0018213 subclass MONDO:0014286 neuropathy, hereditary sensory, type 1F OMIM OMIM:615632 one_to_one @@ -89619,10 +89616,10 @@ MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Orphanet Orphanet:488627 one_to_one MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome UMLS UMLS:C4310745 one_to_one MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome http http://identifiers.org/hgnc/25461 disease_has_basis_in_dysfunction_of -MONDO:0014887 bone marrow failure syndrome 3; BMFS3 MONDO MONDO:0000159,MONDO:0003847,MONDO:0009332 subclass -MONDO:0014887 bone marrow failure syndrome 3; BMFS3 OMIM OMIM:617052 one_to_one -MONDO:0014887 bone marrow failure syndrome 3; BMFS3 UMLS UMLS:C4310744 one_to_one -MONDO:0014887 bone marrow failure syndrome 3; BMFS3 http http://identifiers.org/hgnc/27030 disease_has_basis_in_dysfunction_of +MONDO:0014887 bone marrow failure syndrome 3 MONDO MONDO:0000159,MONDO:0003847,MONDO:0009332 subclass +MONDO:0014887 bone marrow failure syndrome 3 OMIM OMIM:617052 one_to_one +MONDO:0014887 bone marrow failure syndrome 3 UMLS UMLS:C4310744 one_to_one +MONDO:0014887 bone marrow failure syndrome 3 http http://identifiers.org/hgnc/27030 disease_has_basis_in_dysfunction_of MONDO:0014888 MIRAGE syndrome GARD GARD:0013108 one_to_one MONDO:0014888 MIRAGE syndrome MONDO MONDO:0002254,MONDO:0003847 subclass MONDO:0014888 MIRAGE syndrome NCIT NCIT:C147530 one_to_one @@ -94827,10 +94824,10 @@ MONDO:0015966 hereditary eye tumor MONDO MONDO:0002320,MONDO:0005070,MONDO:00151 MONDO:0015966 hereditary eye tumor Orphanet Orphanet:183619 one_to_one MONDO:0015966 hereditary eye tumor UBERON UBERON:0010230 disease_has_location MONDO:0015966 hereditary eye tumor UMLS UMLS:CN200566 one_to_one -MONDO:0015967 rare genetic diabetes mellitus MONDO MONDO:0021136,MONDO:0021150 has_modifier -MONDO:0015967 rare genetic diabetes mellitus MONDO MONDO:0005015,MONDO:0015122,MONDO:0015618,MONDO:0019214 subclass -MONDO:0015967 rare genetic diabetes mellitus Orphanet Orphanet:183625 one_to_one -MONDO:0015967 rare genetic diabetes mellitus UMLS UMLS:CN226817 one_to_one +MONDO:0015967 monogenic diabetes MONDO MONDO:0021136,MONDO:0021150 has_modifier +MONDO:0015967 monogenic diabetes MONDO MONDO:0005015,MONDO:0015122,MONDO:0015618,MONDO:0019214 subclass +MONDO:0015967 monogenic diabetes Orphanet Orphanet:183625 one_to_one +MONDO:0015967 monogenic diabetes UMLS UMLS:CN226817 one_to_one MONDO:0015968 rare genetic hypothalamic or pituitary disease MONDO MONDO:0015513 subclass MONDO:0015968 rare genetic hypothalamic or pituitary disease Orphanet Orphanet:183628 one_to_one MONDO:0015968 rare genetic hypothalamic or pituitary disease UMLS UMLS:CN200567 one_to_one @@ -104631,6 +104628,7 @@ MONDO:0018023 hemoglobin M disease GARD GARD:0013007 one_to_one MONDO:0018023 hemoglobin M disease ICD10 ICD10:D74.0 inexact MONDO:0018023 hemoglobin M disease MESH MESH:C581942 one_to_one MONDO:0018023 hemoglobin M disease MONDO MONDO:0015972,MONDO:0019050 subclass +MONDO:0018023 hemoglobin M disease OMIM OMIM:617971 one_to_one MONDO:0018023 hemoglobin M disease Orphanet Orphanet:330041 one_to_one MONDO:0018023 hemoglobin M disease SCTID SCTID:74912001 one_to_one MONDO:0018023 hemoglobin M disease UMLS UMLS:C3665425,UMLS:CN204238 inexact @@ -110107,7 +110105,7 @@ MONDO:0019078 Ritscher-Schinzel syndrome UMLS UMLS:C0796137 one_to_one MONDO:0019079 proximal spinal muscular atrophy EFO EFO:0008929 one_to_one MONDO:0019079 proximal spinal muscular atrophy GARD GARD:0004531 one_to_one MONDO:0019079 proximal spinal muscular atrophy ICD10 ICD10:G12.0,ICD10:G12.1 inexact -MONDO:0019079 proximal spinal muscular atrophy MONDO MONDO:0020127,MONDO:0020128 subclass +MONDO:0019079 proximal spinal muscular atrophy MONDO MONDO:0001516,MONDO:0020127 subclass MONDO:0019079 proximal spinal muscular atrophy Orphanet Orphanet:70 one_to_one MONDO:0019079 proximal spinal muscular atrophy UMLS UMLS:C4024957,UMLS:CN205570 inexact MONDO:0019080 alopecia totalis GARD GARD:0000613 one_to_one @@ -116648,11 +116646,11 @@ MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy HP HP:0000006 MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO MONDO:0000426,MONDO:0016830,MONDO:0021106 subclass MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy Orphanet Orphanet:98853 one_to_one -MONDO:0020337 congenital dyserythropoietic anemia type i GARD GARD:0002000 one_to_one -MONDO:0020337 congenital dyserythropoietic anemia type i ICD10 ICD10:D64.4 inexact -MONDO:0020337 congenital dyserythropoietic anemia type i MONDO MONDO:0019403 subclass -MONDO:0020337 congenital dyserythropoietic anemia type i Orphanet Orphanet:98869 one_to_one -MONDO:0020337 congenital dyserythropoietic anemia type i SCTID SCTID:59548005 one_to_one +MONDO:0020337 congenital dyserythropoietic anemia type 1 GARD GARD:0002000 one_to_one +MONDO:0020337 congenital dyserythropoietic anemia type 1 ICD10 ICD10:D64.4 inexact +MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO MONDO:0019403 subclass +MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet Orphanet:98869 one_to_one +MONDO:0020337 congenital dyserythropoietic anemia type 1 SCTID SCTID:59548005 one_to_one MONDO:0020338 adult pure red cell aplasia GARD GARD:0010898 one_to_one MONDO:0020338 adult pure red cell aplasia HP HP:0003581 has_modifier MONDO:0020338 adult pure red cell aplasia ICD10 ICD10:D60.0 inexact @@ -117930,6 +117928,58 @@ MONDO:0020606 sex-linked disease HP HP:0010985 has_modifier MONDO:0020606 sex-linked disease ICD9 ICD9:758.81 inexact MONDO:0020606 sex-linked disease MONDO MONDO:0000001,MONDO:0000275 subclass MONDO:0020606 sex-linked disease SCTID SCTID:82852009 one_to_one +MONDO:0020607 Liddle syndrome 1 MONDO MONDO:0008323 subclass +MONDO:0020607 Liddle syndrome 1 OMIM OMIM:177200 one_to_one +MONDO:0020607 Liddle syndrome 1 http http://identifiers.org/hgnc/10600 disease_has_basis_in_dysfunction_of +MONDO:0020627 epileptic encephalopathy, infantile or early childhood MONDO MONDO:0015650 subclass +MONDO:0020627 epileptic encephalopathy, infantile or early childhood OMIMPS OMIMPS:617711 one_to_one +MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO MONDO:0006025,MONDO:0019052,MONDO:0020629 subclass +MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM OMIM:618097 one_to_one +MONDO:0020629 microcephaly, growth restriction and increased sister chromatid exchange MONDO MONDO:0015707 subclass +MONDO:0020629 microcephaly, growth restriction and increased sister chromatid exchange OMIMPS OMIMPS:210900 one_to_one +MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 MONDO MONDO:0020627 subclass +MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 OMIM OMIM:617711 one_to_one +MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 MONDO MONDO:0020627 subclass +MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 OMIM OMIM:617829 one_to_one +MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 MONDO MONDO:0020627 subclass +MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 OMIM OMIM:618012 one_to_one +MONDO:0020835 methemoglobinemia, alpha type MONDO MONDO:0019050 subclass +MONDO:0020835 methemoglobinemia, alpha type OMIM OMIM:617973 one_to_one +MONDO:0020837 oocyte maturation defect 5 MONDO MONDO:0014769 subclass +MONDO:0020837 oocyte maturation defect 5 OMIM OMIM:617996 one_to_one +MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO MONDO:0003847 subclass +MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM OMIM:618042 one_to_one +MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures MONDO MONDO:0003847 subclass +MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures OMIM OMIM:618056 one_to_one +MONDO:0020845 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 MONDO MONDO:0000090 subclass +MONDO:0020845 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 OMIM OMIM:618098 one_to_one +MONDO:0020846 mental retardation, autosomal recessive 64 MONDO MONDO:0019502 subclass +MONDO:0020846 mental retardation, autosomal recessive 64 OMIM OMIM:618103 one_to_one +MONDO:0020847 mental retardation, autosomal dominant 58 MONDO MONDO:0015802 subclass +MONDO:0020847 mental retardation, autosomal dominant 58 OMIM OMIM:618106 one_to_one +MONDO:0020848 osteopetrosis, autosomal dominant 3 MONDO MONDO:0017198 subclass +MONDO:0020848 osteopetrosis, autosomal dominant 3 OMIM OMIM:618107 one_to_one +MONDO:0020849 immunodeficiency 57 MONDO MONDO:0021094 subclass +MONDO:0020849 immunodeficiency 57 OMIM OMIM:618108 one_to_one +MONDO:0020850 intellectual disability, autosomal recessive 65 MONDO MONDO:0019502 subclass +MONDO:0020850 intellectual disability, autosomal recessive 65 OMIM OMIM:618109 one_to_one +MONDO:0020851 spermatogenic failure 30 MONDO MONDO:0004983 subclass +MONDO:0020851 spermatogenic failure 30 OMIM OMIM:618110 one_to_one +MONDO:0020852 spermatogenic failure 31 MONDO MONDO:0004983 subclass +MONDO:0020852 spermatogenic failure 31 OMIM OMIM:618112 one_to_one +MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization MONDO MONDO:0003847 subclass +MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization OMIM OMIM:618113 one_to_one +MONDO:0020854 Liddle syndrome 2 MONDO MONDO:0008323 subclass +MONDO:0020854 Liddle syndrome 2 OMIM OMIM:618114 one_to_one +MONDO:0020854 Liddle syndrome 2 http http://identifiers.org/hgnc/10602 disease_has_basis_in_dysfunction_of +MONDO:0020855 spermatogenic failure 32 MONDO MONDO:0004983 subclass +MONDO:0020855 spermatogenic failure 32 OMIM OMIM:618115 one_to_one +MONDO:0020856 bone marrow failure syndrome 4 MONDO MONDO:0000159 subclass +MONDO:0020856 bone marrow failure syndrome 4 OMIM OMIM:618116 one_to_one +MONDO:0020857 ovarian dysgenesis 7 MONDO MONDO:0009299 subclass +MONDO:0020857 ovarian dysgenesis 7 OMIM OMIM:618117 one_to_one +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO MONDO:0000066 subclass +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 OMIM OMIM:618120 one_to_one MONDO:0021001 hemochromatosis type 1 DOID DOID:0111029 one_to_one MONDO:0021001 hemochromatosis type 1 EFO EFO:0006513 one_to_one MONDO:0021001 hemochromatosis type 1 GARD GARD:0010417 one_to_one @@ -122835,8 +122885,8 @@ MONDO:0024520 renal hypodysplasia/aplasia 3 EFO EFO:0009137 one_to_one MONDO:0024520 renal hypodysplasia/aplasia 3 MONDO MONDO:0018470 subclass MONDO:0024520 renal hypodysplasia/aplasia 3 OMIM OMIM:617805 one_to_one MONDO:0024520 renal hypodysplasia/aplasia 3 UMLS UMLS:CN703737 one_to_one -MONDO:0024521 AAA1 MONDO MONDO:0007031 subclass -MONDO:0024521 AAA1 OMIM OMIM:100070 one_to_one +MONDO:0024521 aortic aneurysm, familial abdominal, 1 MONDO MONDO:0007031 subclass +MONDO:0024521 aortic aneurysm, familial abdominal, 1 OMIM OMIM:100070 one_to_one MONDO:0024522 amyloidosis, primary localized cutaneous, 1 MONDO MONDO:0007101,MONDO:0015301 subclass MONDO:0024522 amyloidosis, primary localized cutaneous, 1 OMIM OMIM:105250 one_to_one MONDO:0024522 amyloidosis, primary localized cutaneous, 1 UMLS UMLS:C0268398 one_to_one @@ -127327,3 +127377,7 @@ MONDO:0100052 acetazolamide-responsive hereditary episodic ataxia CHEBI CHEBI:27 MONDO:0100052 acetazolamide-responsive hereditary episodic ataxia MONDO MONDO:0016227 subclass MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia HP HP:0010910,HP:0010911 disease_has_feature MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia MONDO MONDO:0019242 subclass +MONDO:0100059 hypereosinophilia of undetermined significance MONDO MONDO:0015691 subclass +MONDO:0100061 PRPS1 deficiency disorder MONDO MONDO:0010533,MONDO:0015626,MONDO:0019497 disease_has_feature +MONDO:0100061 PRPS1 deficiency disorder MONDO MONDO:0005244 subclass +MONDO:0100062 developmental and epileptic encephalopathy MONDO MONDO:0100038 subclass