From e789bd7bfedb9b9b7102baed42dc04bfb3e64231 Mon Sep 17 00:00:00 2001 From: katiermullen <102704401+katiermullen@users.noreply.github.com> Date: Thu, 16 Jan 2025 15:46:58 -0500 Subject: [PATCH] Add more ncit x-refs Addresses #8567 --- src/ontology/mondo-edit.obo | 240 ++++++++++++++++++++++++++++++++++++ 1 file changed, 240 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index a3187fce9..7bbc46812 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -4399,10 +4399,12 @@ synonym: "gall bladder in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 gall bladder carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:0050612 {source="MONDO:equivalentTo"} xref: MEDGEN:87523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C4439 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C0345911 {source="MEDGEN:87523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004647 {source="DOID:0050612", source="MONDO:Redundant"} ! in situ carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000374 @@ -4414,9 +4416,11 @@ synonym: "bile duct in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma in situ of bile duct" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0 bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:0050613 {source="MONDO:equivalentTo"} +xref: NCIT:C134609 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0004647 {source="DOID:0050613", source="MONDO:Redundant"} ! in situ carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0002394 ! bile duct +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000375 @@ -4446,12 +4450,14 @@ xref: DOID:0050615 {source="MONDO:equivalentTo"} xref: ICD9:165.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:165.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:756863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C4571 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:449096009 {source="MONDO:equivalentTo"} xref: UMLS:C3164456 {source="MEDGEN:756863", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004992 {source="DOID:0050615", source="DOID:0050615/inferred", source="MONDO:Redundant"} ! cancer is_a: MONDO:0005087 {source="DOID:0050615", source="MONDO:Redundant"} ! respiratory system disorder intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001004 ! respiratory system +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000377 @@ -4570,12 +4576,14 @@ def: "A benign neoplasm that involves the respiratory system." [MONDO:patterns/l synonym: "respiratory system benign neoplasm" EXACT [DOID:0050621, MONDO:patterns/location] xref: DOID:0050621 {source="MONDO:equivalentTo"} xref: MEDGEN:635669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C8531 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:255166003 {source="MONDO:equivalentTo"} xref: UMLS:C0497556 {source="MONDO:equivalentTo", source="MEDGEN:635669", source="MONDO:MEDGEN"} is_a: MONDO:0005087 {source="DOID:0050621", source="MONDO:Redundant"} ! respiratory system disorder is_a: MONDO:0005165 {source="DOID:0050621", source="DOID:0050621/inferred", source="MONDO:Redundant"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001004 ! respiratory system +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000383 @@ -6738,11 +6746,13 @@ synonym: "chordoma (disease) of fused sacrum" EXACT [] synonym: "fused sacrum chordoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:0050900 {source="MONDO:equivalentTo"} xref: MEDGEN:756688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129927 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:447730004 {source="MONDO:equivalentTo"} xref: UMLS:C3164279 {source="MEDGEN:756688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002894 {source="DOID:0050900"} ! spinal chordoma intersection_of: MONDO:0008978 ! chordoma intersection_of: disease_has_location UBERON:0003690 ! fused sacrum +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000519 @@ -6930,10 +6940,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0050917 {source="MONDO:equivalentTo"} xref: MEDGEN:231029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C9379 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C1332165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231029"} is_a: MONDO:0003438 {source="DOID:0050917", source="MONDO:Entailed", source="MONDO:Redundant"} ! combined small cell lung carcinoma intersection_of: MONDO:0003438 ! combined small cell lung carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000533 @@ -8128,10 +8140,12 @@ subset: otar {source="MONDO:OTAR"} synonym: "central nervous system benign neoplasm" EXACT [DOID:0060090, MONDO:patterns/location] xref: DOID:0060090 {source="MONDO:equivalentTo"} xref: MEDGEN:488882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C188049 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C0347509 {source="MEDGEN:488882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000648 {source="DOID:0060090", source="MONDO:Redundant"} ! nervous system benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001017 ! central nervous system +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000629 @@ -8277,11 +8291,13 @@ def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patter synonym: "musculoskeletal system benign neoplasm" EXACT [DOID:0060099, MONDO:patterns/location] xref: DOID:0060099 {source="MONDO:equivalentTo"} xref: MEDGEN:1709701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C166356 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5237920 {source="MEDGEN:1709701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002081 {source="DOID:0060099", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disorder is_a: MONDO:0005165 {source="DOID:0060099", source="DOID:0060099/inferred", source="MONDO:Redundant"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000637 @@ -8294,11 +8310,13 @@ synonym: "musculoskeletal system cancer" EXACT [DOID:0060100, MONDO:patterns/loc synonym: "skeletal system cancer" RELATED [] xref: DOID:0060100 {source="MONDO:equivalentTo"} xref: MEDGEN:1714562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C166357 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C0036210 {source="MEDGEN:1714562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002081 {source="DOID:0060100", source="MONDO:Entailed", source="MONDO:Redundant"} ! musculoskeletal system disorder is_a: MONDO:0004992 {source="DOID:0060100", source="DOID:0060100/inferred", source="MONDO:Redundant"} ! cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000638 @@ -11984,8 +12002,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080186 {source="MONDO:equivalentTo"} xref: MEDGEN:266089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C7269 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C1266034 {source="MEDGEN:266089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004991 {source="DOID:0080186"} ! minimally invasive lung adenocarcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000896 @@ -13184,12 +13204,14 @@ xref: DOID:10153 {source="MONDO:equivalentTo"} xref: ICD10CM:C17.2 {source="DOID:10153"} xref: ICD9:152.2 {source="DOID:10153"} xref: MEDGEN:83390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C193425 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:363405009 {source="DOID:10153"} xref: SCTID:93832004 {source="DOID:10153"} xref: UMLS:C0345836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83390"} is_a: MONDO:0000956 {source="DOID:10153", source="MONDO:Entailed", source="MONDO:Redundant"} ! small intestine cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002116 ! ileum +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0000956 @@ -14278,12 +14300,14 @@ xref: ICD10CM:N60.0 {source="DOID:10349", source="MONDO:equivalentTo"} xref: ICD10CM:N60.09 {source="DOID:10349"} xref: ICD9:610.0 {source="DOID:10349", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:20866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C3378 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3378 {source="DOID:10349", source="MONDO:otherHierarchy"} xref: SCTID:198090005 {source="DOID:10349"} xref: SCTID:266578003 {source="DOID:10349", source="MONDO:equivalentTo"} xref: SCTID:270538000 {source="DOID:10349"} xref: UMLS:C0037619 {source="MEDGEN:20866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001011 {source="DOID:10349"} ! breast cyst +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001010 @@ -14301,11 +14325,13 @@ xref: ICD10CM:N60.0 {source="DOID:10350"} xref: MEDGEN:14220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D047688 {source="MONDO:equivalentTo", source="DOID:10350"} xref: NCIT:C5315 {source="MONDO:otherHierarchy", source="DOID:10350"} +xref: NCIT:C5315 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:270538000 {source="DOID:10350"} xref: SCTID:399294002 {source="MONDO:equivalentTo", source="DOID:10350"} xref: SCTID:56726003 {source="DOID:10350"} xref: UMLS:C0006144 {source="MONDO:equivalentTo", source="MEDGEN:14220", source="MONDO:MEDGEN"} is_a: MONDO:0000620 {source="DOID:10350"} ! breast benign neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001012 @@ -16154,6 +16180,7 @@ xref: DOID:10744 {source="MONDO:equivalentTo"} xref: ICD10CM:C57.1 {source="DOID:10744"} xref: ICD9:183.3 {source="DOID:10744", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:577691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C179934 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:188202001 {source="DOID:10744"} xref: SCTID:449259009 {source="DOID:10744", source="MONDO:equivalentTo"} xref: SCTID:93728003 {source="DOID:10744"} @@ -16161,6 +16188,7 @@ xref: UMLS:C0346866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0001351 {source="DOID:10744"} ! uterine adnexa cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0012332 ! broad ligament of uterus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001109 @@ -21818,12 +21846,14 @@ xref: DOID:11839 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.1 {source="DOID:11839"} xref: ICD9:187.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11839"} xref: MEDGEN:509337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C194357 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:363451005 {source="MONDO:equivalentTo", source="DOID:11839"} xref: SCTID:93813005 {source="DOID:11839"} xref: UMLS:C0153599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509337"} is_a: MONDO:0001325 {source="DOID:11839", source="MONDO:Redundant"} ! penile cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001299 ! glans penis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001389 @@ -26905,12 +26935,14 @@ xref: DOID:13168 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.0 {source="DOID:13168"} xref: ICD9:187.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13168"} xref: MEDGEN:509336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C194356 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:363450006 {source="MONDO:equivalentTo", source="DOID:13168"} xref: SCTID:93805009 {source="DOID:13168"} xref: UMLS:C0153598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509336"} is_a: MONDO:0002898 {source="DOID:13168"} ! skin cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0011374 ! prepuce +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001654 @@ -27277,6 +27309,7 @@ xref: ICD10CM:C34.9 {source="DOID:1325"} xref: ICD9:162.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1325"} xref: MEDGEN:730206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C156885 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:187875007 {source="DOID:1325"} xref: SCTID:190092003 {source="DOID:1325"} xref: SCTID:269465004 {source="DOID:1325"} @@ -27286,6 +27319,7 @@ is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Redundant"} ! respiratory is_a: MONDO:0002807 {source="MONDO:Redundant"} ! bronchial neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002185 ! bronchus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0001673 @@ -45868,8 +45902,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:3281 {source="MONDO:equivalentTo"} xref: MEDGEN:317530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45722 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C1707449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317530"} is_a: MONDO:0006456 {source="DOID:3281"} ! thymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0002591 @@ -53203,8 +53239,10 @@ name: sebaceous basal cell carcinoma synonym: "skin basosebaceous basal cell carcinoma" EXACT [DOID:4286] xref: DOID:4286 {source="MONDO:equivalentTo"} xref: MEDGEN:83180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C4346 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C0334683 {source="MEDGEN:83180", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005341 {source="DOID:4286"} ! skin basal cell carcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0002943 @@ -76529,6 +76567,7 @@ xref: DOID:7224 {source="MONDO:equivalentTo"} xref: ICD10CM:C70.1 {source="DOID:7224"} xref: ICD9:192.3 {source="DOID:7224", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:509351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C194412 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:188320007 {source="DOID:7224"} xref: SCTID:363476006 {source="DOID:7224", source="MONDO:equivalentTo"} xref: SCTID:94069006 {source="DOID:7224"} @@ -76537,6 +76576,7 @@ is_a: MONDO:0003544 {source="DOID:7224", source="MONDO:Redundant"} ! spinal cord is_a: MONDO:0021322 {source="MONDO:Redundant"} ! malignant tumor of meninges intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003292 ! meninx of spinal cord +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0004152 @@ -87198,12 +87238,14 @@ xref: DOID:8937 {source="MONDO:equivalentTo"} xref: ICD10CM:C14.2 {source="MONDO:equivalentTo", source="DOID:8937"} xref: ICD9:149.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8937"} xref: MEDGEN:509279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C194063 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:187716008 {source="MONDO:equivalentTo", source="DOID:8937"} xref: SCTID:94144008 {source="DOID:8937"} xref: UMLS:C0153406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509279"} is_a: MONDO:0004608 {source="DOID:8937"} ! oropharynx cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001735 ! tonsillar ring +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0004686 @@ -106383,6 +106425,7 @@ synonym: "brain malignant glioma" EXACT [MONDO:patterns/location] synonym: "malignant glioma of brain" EXACT [MONDO:design_pattern] xref: DOID:0060108 {source="EFO:0005543", source="MONDO:equivalentTo"} xref: MEDGEN:91163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C162993 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C4822 {source="EFO:0005543"} xref: SCTID:254937005 {source="MONDO:equivalentTo"} xref: UMLS:C0349661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91163"} @@ -106390,6 +106433,7 @@ is_a: MONDO:0001657 {source="DOID:0060108", source="MONDO:Entailed", source="MON is_a: MONDO:0100342 {source="DOID:0060108", source="MONDO:Redundant"} ! malignant glioma intersection_of: MONDO:0100342 ! malignant glioma intersection_of: disease_has_location UBERON:0000955 ! brain +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0005500 @@ -123560,10 +123604,12 @@ xref: EFO:1000291 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:572.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:155428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4936 {source="MONDO:otherHierarchy", source="EFO:1000291"} +xref: NCIT:C4936 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:714253009 {source="MONDO:equivalentTo"} xref: UMLS:C0745754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155428"} is_a: MONDO:0005070 {source="EFO:1000291", source="EFO:1000291/inferred"} ! neoplasm relationship: disease_has_location UBERON:0002107 ! liver +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0006242 @@ -135256,6 +135302,7 @@ xref: ICD9:152.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID: xref: MedDRA:10023166 {source="EFO:1000998"} xref: MEDGEN:56302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D007580 {source="DOID:13499", source="EFO:1000998"} +xref: NCIT:C170919 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:363404008 {source="MONDO:equivalentTo", source="DOID:13499"} xref: SCTID:93846004 {source="DOID:13499"} xref: UMLS:C0153427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56302"} @@ -135263,6 +135310,7 @@ is_a: MONDO:0000956 {source="DOID:13499", source="MONDO:Redundant", source="http is_a: MONDO:0002564 {source="MONDO:Redundant"} ! jejunal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002115 ! jejunum +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0006816 @@ -163579,6 +163627,7 @@ xref: GARD:16901 {source="MONDO:GARD"} xref: ICD10CM:C73 {source="Orphanet:99361/attributed", source="Orphanet:99361/ntbt", source="Orphanet:99361"} xref: MEDGEN:322311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536911 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="Orphanet:99361"} +xref: NCIT:C46099 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:155240 {source="Orphanet:99361/e", source="MONDO:equivalentTo", source="DOID:0050547", source="Orphanet:99361"} xref: Orphanet:653 {source="OMIM:155240"} xref: Orphanet:99361 {source="OMIM:155240", source="MONDO:equivalentTo"} @@ -163589,6 +163638,7 @@ intersection_of: MONDO:0015277 ! medullary thyroid gland carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9967 {source="OMIM:155240"} ! RET property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0007959 @@ -163817,6 +163867,7 @@ xref: DOID:0111511 {source="MONDO:equivalentTo"} xref: GARD:8468 {source="MONDO:GARD"} xref: MEDGEN:331890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536149 {source="MONDO:equivalentTo"} +xref: NCIT:C176905 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:155755 {source="Orphanet:252206/e", source="MONDO:equivalentTo", source="Orphanet:252206"} xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"} xref: SCTID:717968005 {source="MONDO:equivalentTo"} @@ -163827,6 +163878,7 @@ relationship: disease_has_feature MONDO:0005105 {source="MESH:C536149"} ! melano relationship: disease_has_feature MONDO:0005872 {source="MESH:C536149"} ! nervous system cancer relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 {source="MONDO:mim2gene_medgen"} ! CDKN2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0007968 @@ -196695,6 +196747,7 @@ synonym: "PDGFRB myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/di xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1632352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562978 {source="MONDO:equivalentTo"} +xref: NCIT:C176943 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:228550 {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="OMIM:228550"} xref: SCTID:254146000 {source="MONDO:equivalentTo"} @@ -196703,6 +196756,7 @@ is_a: MONDO:0016824 {source="DC-OMIM:228550", source="MESH:C562978", source="MON intersection_of: MONDO:0016824 ! infantile myofibromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 ! PDGFRB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8804 {source="MONDO:mim2gene_medgen", source="OMIM:228550"} ! PDGFRB +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0009228 @@ -206667,6 +206721,7 @@ xref: icd11.foundation:403221860 {source="MONDO:equivalentTo"} xref: MEDGEN:154259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537387 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: NANDO:2200827 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} +xref: NCIT:C175215 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:249400 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"} xref: UMLS:C0544862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154259"} @@ -206674,6 +206729,7 @@ is_a: MONDO:0005073 {source="Orphanet:2481"} ! melanocytic nevus is_a: MONDO:0042983 {source="MESH:C537387", source="https://orcid.org/0000-0002-6601-2165"} ! neurocutaneous syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7989 {source="MONDO:mim2gene_medgen", source="OMIM:249400"} ! NRAS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0009579 @@ -249002,11 +249058,13 @@ synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leuke xref: GARD:10352 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"} xref: MESH:C563324 {source="MONDO:equivalentTo"} +xref: NCIT:C162696 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:71290 {source="OMIM:601399", source="MONDO:equivalentTo"} xref: SCTID:725034002 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="Orphanet:71290"} ! hereditary neoplastic syndrome is_a: MONDO:0021181 {source="MESH:C563324", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited blood coagulation disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011071 {source="MONDO:CLINGEN"} +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0011072 @@ -250163,6 +250221,7 @@ xref: GARD:10867 {source="MONDO:GARD"} xref: ICD10CM:D23.3 {source="Orphanet:867/attributed", source="Orphanet:867/ntbt", source="Orphanet:867"} xref: MEDGEN:220890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536552 {source="Orphanet:867", source="Orphanet:867/e"} +xref: NCIT:C205364 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:79493 {source="OMIM:601606"} xref: Orphanet:867 {source="MONDO:equivalentTo", source="OMIM:601606"} xref: SCTID:403825008 {source="MONDO:equivalentTo"} @@ -250170,6 +250229,7 @@ xref: UMLS:C1275122 {source="MEDGEN:220890", source="MONDO:equivalentTo", source is_a: MONDO:0011512 {source="Orphanet:867"} ! Brooke-Spiegler syndrome relationship: has_characteristic HP:0000006 {source="Orphanet:867"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0011115 @@ -252134,6 +252194,7 @@ synonym: "hemangioma, hereditary capillary" EXACT [OMIM:602089] synonym: "hereditary capillary infantile hemangioma" EXACT [] xref: MEDGEN:355573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535860 {source="MONDO:equivalentTo"} +xref: NCIT:C6645 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:602089 {source="MONDO:equivalentTo"} xref: Orphanet:464293 {source="MONDO:equivalentObsolete"} xref: Orphanet:91415 {source="OMIM:602089", source="MONDO:equivalentObsolete", source="MONDO:Obsolete"} @@ -252148,6 +252209,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6302" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0011192 @@ -259933,6 +259995,7 @@ xref: GARD:10179 {source="MONDO:GARD"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:346703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536611 {source="Orphanet:79493", source="Orphanet:79493/e"} +xref: NCIT:C205541 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:605041 {source="DOID:0050693", source="MONDO:equivalentTo", source="Orphanet:79493", source="Orphanet:79493/e"} xref: Orphanet:79493 {source="MONDO:equivalentTo", source="OMIM:605041"} xref: SCTID:703531009 {source="MONDO:equivalentTo"} @@ -259948,6 +260011,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0011513 @@ -285733,6 +285797,7 @@ xref: GARD:302 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:99749/inclusion", source="Orphanet:99749", source="Orphanet:99749/ntbt"} xref: icd11.foundation:421553273 {source="MONDO:equivalentTo"} xref: MEDGEN:1713491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C166153 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"} xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} xref: UMLS:C5235141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713491"} @@ -285742,6 +285807,7 @@ is_a: MONDO:0028226 {source="Orphanet:99749"} ! autosomal recessive severe conge relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16915 {source="MONDO:mim2gene_medgen", source="OMIM:610738"} ! HAX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0012549 @@ -297771,6 +297837,7 @@ xref: GARD:10939 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="DOID:0080351", source="Orphanet:140944/attributed", source="Orphanet:140944/ntbt", source="Orphanet:140944"} xref: MEDGEN:442876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567863 {source="MONDO:equivalentTo"} +xref: NCIT:C177122 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NORD:979 {source="MONDO:NORD"} xref: OMIM:612918 {source="DOID:0080351", source="Orphanet:140944/e", source="MONDO:equivalentTo", source="Orphanet:140944"} xref: Orphanet:140944 {source="OMIM:612918", source="DOID:0080351", source="MONDO:equivalentTo"} @@ -297784,6 +297851,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5210" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0013039 @@ -314373,6 +314441,7 @@ synonym: "tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 [] xref: GARD:13219 {source="MONDO:GARD"} xref: MEDGEN:482122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C172639 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"} xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"} xref: SCTID:765057007 {source="MONDO:equivalentTo"} @@ -314380,6 +314449,7 @@ xref: UMLS:C3280492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015356 {source="Orphanet:289539"} ! hereditary neoplastic syndrome relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013692 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/950 {source="MONDO:mim2gene_medgen", source="OMIM:614327"} ! BAP1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0013693 @@ -318453,6 +318523,7 @@ xref: DOID:0081151 {source="MONDO:equivalentTo"} xref: GARD:13565 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:445018/attributed", source="Orphanet:445018/ntbt", source="Orphanet:445018"} xref: MEDGEN:766426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C17680 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source="Orphanet:445018/e"} xref: Orphanet:1572 {source="OMIM:614700"} xref: Orphanet:445018 {source="MONDO:equivalentTo"} @@ -318467,6 +318538,7 @@ relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:445018", sourc relationship: excluded_subClassOf MONDO:0019126 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete intractable diarrhea of infancy relationship: excluded_subClassOf MONDO:0019787 {source="Orphanet:445018", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune enteropathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1742 {source="MONDO:mim2gene_medgen", source="OMIM:614700"} ! LRBA +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0013864 @@ -325129,6 +325201,7 @@ synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1] synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15939 {source="MONDO:GARD"} xref: MEDGEN:815414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C176944 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:615293 {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="OMIM:615293"} xref: UMLS:C3809084 {source="MEDGEN:815414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325137,6 +325210,7 @@ intersection_of: MONDO:0016824 ! infantile myofibromatosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 ! NOTCH3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7883 {source="MONDO:mim2gene_medgen"} ! NOTCH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0014123 @@ -329717,6 +329791,7 @@ synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070481 {source="MONDO:equivalentTo"} xref: GARD:16000 {source="MONDO:GARD"} xref: MEDGEN:816613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C186704 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:615670 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:615670"} xref: UMLS:C3810283 {source="MEDGEN:816613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329725,6 +329800,7 @@ relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7663" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0014300 @@ -330682,6 +330758,7 @@ synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2] xref: DOID:0081153 {source="MONDO:equivalentTo"} xref: GARD:17852 {source="MONDO:GARD"} xref: MEDGEN:1799211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C176801 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:615767 {source="MONDO:equivalentTo", source="Orphanet:477661"} xref: Orphanet:238569 {source="OMIM:615767"} xref: Orphanet:477661 {source="MONDO:equivalentTo"} @@ -330690,6 +330767,7 @@ is_a: MONDO:0015517 {source="DC-OMIM:615767", source="DOID:0081153", source="OMI relationship: excluded_subClassOf MONDO:0016542 {source="Orphanet:238569/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:477661", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6005 {source="MONDO:mim2gene_medgen"} ! IL21 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0014339 @@ -332688,6 +332766,7 @@ synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [] xref: GARD:17737 {source="MONDO:GARD"} xref: ICD10CM:M35.8 {source="Orphanet:438159/attributed", source="Orphanet:438159/ntbt", source="Orphanet:438159"} xref: MEDGEN:863232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C157123 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:615952 {source="Orphanet:438159/e", source="MONDO:equivalentTo", source="Orphanet:438159"} xref: Orphanet:438159 {source="MONDO:equivalentTo"} xref: UMLS:C4014795 {source="MEDGEN:863232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332699,6 +332778,7 @@ relationship: excluded_subClassOf MONDO:0016537 {source="Orphanet:438159", sourc relationship: excluded_subClassOf MONDO:0019098 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune thrombocytopenia relationship: excluded_subClassOf MONDO:0020108 {source="Orphanet:438159", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune hemolytic anemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11364 {source="MONDO:mim2gene_medgen", source="OMIM:615952"} ! STAT3 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0014415 @@ -335855,6 +335935,7 @@ synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_patte synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1] synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [] xref: MEDGEN:863974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C203436 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:616216 {source="MONDO:equivalentTo"} xref: UMLS:C4015537 {source="MONDO:equivalentTo", source="MEDGEN:863974", source="MONDO:MEDGEN"} is_a: MONDO:0011071 {source="Orphanet:71290", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome @@ -335864,6 +335945,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014536 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 {source="MONDO:mim2gene_medgen", source="OMIM:616216"} ! ETV6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6928" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0014537 @@ -350161,11 +350243,13 @@ subset: rare synonym: "HHV-8-related disorder" EXACT [Orphanet:102024] xref: GARD:19830 {source="MONDO:GARD"} xref: MEDGEN:1843228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C27697 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:102024 {source="MONDO:equivalentTo"} xref: UMLS:C5680371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843228"} is_a: MONDO:0017341 {source="Orphanet:102024"} ! virus associated tumor intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_arises_from_feature MONDO:0005187 ! human herpesvirus 8 infection +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015158 @@ -350266,10 +350350,12 @@ synonym: "AML and myelodysplastic syndromes related to alkylating agent" EXACT [ xref: GARD:19835 {source="MONDO:GARD"} xref: icd11.foundation:1401970160 {source="MONDO:equivalentTo"} xref: MEDGEN:233970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C27913 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:102379 {source="MONDO:equivalentTo"} xref: UMLS:C1332234 {source="MEDGEN:233970", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019457 {source="Orphanet:102379", source="icd11.foundation:1401970160"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome relationship: has_characteristic PATO:0000389 ! acute +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015165 @@ -350904,11 +350990,13 @@ xref: ICD10CM:Q28.2 {source="Orphanet:1053/ntbt", source="Orphanet:1053"} xref: icd11.foundation:1884295064 {source="MONDO:equivalentTo", source="Orphanet:1053"} xref: MEDGEN:140912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536535 {source="Orphanet:1053/e", source="MONDO:equivalentTo", source="Orphanet:1053"} +xref: NCIT:C98642 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:1053 {source="MONDO:equivalentTo"} xref: SCTID:253194008 {source="MONDO:equivalentTo"} xref: UMLS:C0431420 {source="MEDGEN:140912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001256 {source="Orphanet:1053"} ! arteriovenous hemangioma/malformation relationship: disease_has_location UBERON:0006666 ! great cerebral vein +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm" xsd:anyURI {source="GARD:0005467"} [Term] @@ -353671,11 +353759,13 @@ xref: GARD:19893 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:137935", source="Orphanet:137935/ntbt"} xref: ICD9:228.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:825419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C99086 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:137935 {source="MONDO:equivalentTo"} xref: SCTID:703199001 {source="MONDO:equivalentTo"} xref: UMLS:C3839574 {source="MONDO:equivalentTo", source="MEDGEN:825419", source="MONDO:MEDGEN"} is_a: MONDO:0016223 {source="Orphanet:137935"} ! infantile hemangioma of rare localization is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015318 @@ -355126,6 +355216,7 @@ xref: GARD:19948 {source="MONDO:GARD"} xref: ICD10CM:D10.6 {source="MONDO:relatedTo", source="Orphanet:141107/ntbt", source="Orphanet:141107"} xref: icd11.foundation:1597380817 {source="MONDO:equivalentTo"} xref: MEDGEN:1625954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C202982 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:141107 {source="MONDO:equivalentTo"} xref: UMLS:C4531264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625954"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm @@ -355133,6 +355224,7 @@ is_a: MONDO:0019500 {source="Orphanet:141107"} ! extragonadal teratoma is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease intersection_of: MONDO:0002601 ! teratoma intersection_of: disease_has_location UBERON:0001728 ! nasopharynx +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015392 @@ -358756,9 +358848,11 @@ xref: GARD:20036 {source="MONDO:GARD"} xref: ICD10CM:C96.2 {source="Orphanet:158775", source="Orphanet:158775/ntbt"} xref: icd11.foundation:481663898 {source="MONDO:equivalentTo"} xref: MEDGEN:856636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C115460 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:158775 {source="MONDO:equivalentTo"} xref: UMLS:C3897042 {source="MEDGEN:856636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020331 {source="Orphanet:158775", source="icd11.foundation:481663898"} ! indolent systemic mastocytosis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015558 @@ -358772,9 +358866,11 @@ xref: GARD:20037 {source="MONDO:GARD"} xref: ICD10CM:C96.2 {source="Orphanet:158778", source="Orphanet:158778/ntbt"} xref: icd11.foundation:922733413 {source="MONDO:equivalentTo"} xref: MEDGEN:1672479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C198573 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:158778 {source="MONDO:equivalentTo"} xref: UMLS:C4509020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1672479"} is_a: MONDO:0020331 {source="Orphanet:158778", source="icd11.foundation:922733413"} ! indolent systemic mastocytosis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015559 @@ -363980,6 +364076,7 @@ synonym: "primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma" EXACT xref: GARD:20157 {source="MONDO:GARD"} xref: ICD10CM:C84.4 {source="MONDO:relatedTo", source="Orphanet:178528", source="Orphanet:178528/ntbt"} xref: MEDGEN:1388716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45339 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:178528 {source="MONDO:equivalentTo"} xref: SCTID:765136002 {source="MONDO:equivalentTo"} xref: UMLS:C4518232 {source="MEDGEN:1388716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -363989,6 +364086,7 @@ is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="htt property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015812 @@ -364135,10 +364233,12 @@ subset: rare xref: GARD:20165 {source="MONDO:GARD"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:697651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C6858 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:178563 {source="MONDO:equivalentTo"} xref: SCTID:402881008 {source="MONDO:equivalentTo"} xref: UMLS:C1274310 {source="MEDGEN:697651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018898 {source="Orphanet:178563"} ! primary cutaneous lymphoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0015821 @@ -372907,10 +373007,12 @@ xref: ICD10CM:C54.2 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.3 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.8 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: MEDGEN:1672976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C126773 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:213736 {source="MONDO:equivalentTo"} xref: UMLS:C5190779 {source="MEDGEN:1672976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004992 {source="Orphanet:213736"} ! cancer is_a: MONDO:0021650 {source="https://orcid.org/0000-0002-6601-2165"} ! uterine corpus neuroendocrine neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0016271 @@ -373022,9 +373124,11 @@ xref: ICD10CM:C53.0 {source="Orphanet:213777/btnt", source="MONDO:relatedTo", so xref: ICD10CM:C53.1 {source="Orphanet:213777/btnt", source="Orphanet:213777"} xref: ICD10CM:C53.8 {source="Orphanet:213777/btnt", source="Orphanet:213777"} xref: MEDGEN:1668378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C128045 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:213777 {source="MONDO:equivalentTo"} xref: UMLS:C4751235 {source="MONDO:equivalentTo", source="MEDGEN:1668378", source="MONDO:MEDGEN"} is_a: MONDO:0002974 {source="Orphanet:213777"} ! cervical cancer +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0016277 @@ -373042,9 +373146,11 @@ xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213782/btnt", so xref: ICD10CM:C53.1 {source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: ICD10CM:C53.8 {source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: MEDGEN:1843195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C40228 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:213782 {source="MONDO:equivalentTo"} xref: UMLS:C5679806 {source="MEDGEN:1843195", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002974 {source="Orphanet:213782"} ! cervical cancer +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0016278 @@ -395020,9 +395126,11 @@ subset: rare synonym: "EBV-associated carcinoma" EXACT [Orphanet:289651] xref: GARD:21148 {source="MONDO:GARD"} xref: MEDGEN:1842328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C27690 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:289651 {source="MONDO:equivalentTo"} xref: UMLS:C5679940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842328"} is_a: MONDO:0017342 {source="Orphanet:289651"} ! Epstein-Barr virus-related tumor +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017345 @@ -400048,10 +400156,12 @@ synonym: "DLBCL with chronic inflammation" EXACT [Orphanet:300888] xref: GARD:21250 {source="MONDO:GARD"} xref: ICD10CM:C83.3 {source="Orphanet:300888", source="Orphanet:300888/ntbt"} xref: MEDGEN:1374328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C80289 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:300888 {source="MONDO:equivalentTo"} xref: UMLS:C4511460 {source="MEDGEN:1374328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017343 {source="Orphanet:300888"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0018905 {source="Orphanet:300888"} ! diffuse large B-cell lymphoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017602 @@ -403416,11 +403526,13 @@ xref: GARD:21362 {source="MONDO:GARD"} xref: ICD10CM:C16.0 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} xref: ICD10CM:C16.2 {source="Orphanet:313920/ntbt", source="Orphanet:313920"} xref: MEDGEN:896878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C162304 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:313920 {source="MONDO:equivalentTo"} xref: SCTID:716586009 {source="MONDO:equivalentTo"} xref: UMLS:C4274414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:896878"} is_a: MONDO:0004950 {source="Orphanet:313920"} ! gastric carcinoma is_a: MONDO:0017344 {source="Orphanet:313920"} ! Epstein-Barr virus-associated carcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017785 @@ -404185,9 +404297,11 @@ synonym: "Somatoprolactinoma" EXACT [Orphanet:314769] xref: GARD:21391 {source="MONDO:GARD"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314769", source="Orphanet:314769/ntbt"} xref: MEDGEN:1649254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45928 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:314769 {source="MONDO:equivalentTo"} xref: UMLS:C4755297 {source="MEDGEN:1649254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017822 {source="Orphanet:314769"} ! mixed functioning pituitary adenoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017824 @@ -404238,9 +404352,11 @@ subset: rare xref: GARD:21393 {source="MONDO:GARD"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:314790/ntbt", source="Orphanet:314790"} xref: MEDGEN:1813085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45924 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:314790 {source="MONDO:equivalentTo"} xref: UMLS:C5680967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1813085"} is_a: MONDO:0019613 {source="Orphanet:314790"} ! non-functioning pituitary adenoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017827 @@ -405707,10 +405823,12 @@ xref: DOID:0081413 {source="MONDO:equivalentTo"} xref: GARD:17446 {source="MONDO:GARD"} xref: ICD10CM:C64 {source="Orphanet:319308/ntbt", source="Orphanet:319308"} xref: MEDGEN:1376834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C154494 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:319308 {source="MONDO:equivalentTo"} xref: SCTID:764694005 {source="MONDO:equivalentTo"} xref: UMLS:C4518356 {source="MEDGEN:1376834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005086 {source="DOID:0081413", source="Orphanet:319308"} ! renal cell carcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017887 @@ -406108,12 +406226,14 @@ synonym: "primary lymphoid conjunctival tumour" EXACT OMO:0003005 [] synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern] xref: GARD:21426 {source="MONDO:GARD"} xref: MEDGEN:1635420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C175432 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:319667 {source="MONDO:equivalentTo"} xref: SCTID:763477007 {source="MONDO:equivalentTo"} xref: UMLS:C4706485 {source="MEDGEN:1635420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017207 {source="MONDO:Redundant", source="Orphanet:319667"} ! primary organ-specific lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001811 ! conjunctiva +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0017908 @@ -412204,6 +412324,7 @@ xref: ICDO:8142/3 {source="NCIT:C3190"} xref: MEDGEN:928895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008039 {source="DOID:4023", source="MONDO:equivalentTo"} xref: NCIT:C3190 {source="DOID:4023", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} +xref: NCIT:C3190 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:36273 {source="MONDO:equivalentTo"} xref: SCTID:307594007 {source="DOID:4023"} xref: SCTID:37995004 {source="DOID:4023"} @@ -412214,6 +412335,7 @@ is_a: MONDO:0005017 {source="DOID:4023", source="https://github.com/NCI-Thesauru is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition relationship: disease_has_location UBERON:0001167 ! wall of stomach property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7459" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018185 @@ -413599,11 +413721,13 @@ synonym: "AML with t(8;16)(p11;p13) translocation" EXACT [Orphanet:370026] xref: GARD:21588 {source="MONDO:GARD"} xref: ICD10CM:C92.0 {source="Orphanet:370026/ntbt", source="Orphanet:370026"} xref: MEDGEN:1376688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C200421 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:370026 {source="MONDO:equivalentTo"} xref: SCTID:725390002 {source="MONDO:equivalentTo"} xref: UMLS:C4511003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376688"} is_a: MONDO:0018874 {source="Orphanet:370026"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018257 @@ -417026,10 +417150,12 @@ synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [] xref: GARD:12759 {source="MONDO:GARD"} xref: ICD10CM:C92.0 {source="Orphanet:402020/ntbt", source="Orphanet:402020"} xref: MEDGEN:415269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C82426 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:402020 {source="MONDO:equivalentTo"} xref: UMLS:C2826172 {source="MEDGEN:415269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018874 {source="Orphanet:402020"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262" xsd:anyURI {source="GARD:0012759"} [Term] @@ -417280,11 +417406,13 @@ subset: rare xref: GARD:21721 {source="MONDO:GARD"} xref: ICD10CM:C64 {source="Orphanet:404511/ntbt", source="Orphanet:404511"} xref: MEDGEN:1388623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C121955 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"} xref: Orphanet:404511 {source="MONDO:equivalentTo"} xref: SCTID:734015000 {source="MONDO:equivalentTo"} xref: UMLS:C4518333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1388623"} is_a: MONDO:0007763 {source="Orphanet:404511"} ! nonpapillary renal cell carcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018449 @@ -420947,11 +421075,13 @@ subset: rare synonym: "HIV-related cancer" EXACT [Orphanet:443291] xref: GARD:21857 {source="MONDO:GARD"} xref: MEDGEN:1843219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C4046 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:443291 {source="MONDO:equivalentTo"} xref: UMLS:C5680059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843219"} is_a: MONDO:0017341 {source="Orphanet:443291"} ! virus associated tumor intersection_of: MONDO:0024571 ! AIDS-related disorder intersection_of: disease_has_feature MONDO:0004992 ! cancer +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018629 @@ -422611,9 +422741,11 @@ xref: ICD10CM:C02.2 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: ICD10CM:C02.3 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: ICD10CM:C02.4 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: ICD10CM:C02.8 {source="Orphanet:457252", source="Orphanet:457252/btnt"} +xref: NCIT:C8169 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:457252 {source="MONDO:equivalentObsolete"} is_a: MONDO:0000500 ! tongue squamous cell carcinoma is_a: MONDO:0005586 {source="MONDO:Redundant", source="Orphanet:457252"} ! head and neck neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018709 @@ -423078,11 +423210,13 @@ subset: orphanet_rare {source="Orphanet:464359"} subset: rare xref: ICD10CM:D30.0 {source="Orphanet:464359", source="Orphanet:464359/ntbt"} xref: MEDGEN:1830110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C157748 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:464359 {source="MONDO:equivalentTo"} xref: UMLS:C5681098 {source="MEDGEN:1830110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021163 {source="Orphanet:464359"} ! kidney neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000081 ! metanephros +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018739 @@ -423519,10 +423653,12 @@ synonym: "SMARCA4-deficient thoracic sarcoma" EXACT [Orphanet:466962] xref: DOID:0080532 {source="MONDO:equivalentTo"} xref: GARD:21943 {source="MONDO:GARD"} xref: MEDGEN:1806595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C183115 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:466962 {source="MONDO:equivalentTo"} xref: UMLS:C5554190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806595"} is_a: MONDO:0018078 {source="Orphanet:466962"} ! soft tissue sarcoma is_a: MONDO:0020641 {source="Orphanet:466962"} ! respiratory tract neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018762 @@ -426641,9 +426777,11 @@ xref: icd11.foundation:1046496266 {source="MONDO:equivalentTo", source="Orphanet xref: MedDRA:10065863 {source="Orphanet:541/e", source="Orphanet:541"} xref: MEDGEN:1843249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D054446 {source="Orphanet:541/e", source="Orphanet:541"} +xref: NCIT:C7195 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:541 {source="MONDO:equivalentTo"} xref: UMLS:C5679826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843249"} is_a: MONDO:0015816 {source="Orphanet:541"} ! indolent primary cutaneous T-cell lymphoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0018898 @@ -437419,12 +437557,14 @@ xref: GARD:13020 {source="MONDO:GARD"} xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"} xref: icd11.foundation:1796778763 {source="Orphanet:79490", source="MONDO:equivalentTo"} xref: MEDGEN:1843242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45485 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:79490 {source="MONDO:equivalentTo"} xref: UMLS:C4738056 {source="MEDGEN:1843242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma is_a: MONDO:0005833 {source="PMID:31932019", source="https://orcid.org/0000-0001-7941-2961"} ! lymphatic system disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0019330 @@ -441347,6 +441487,7 @@ xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source=" xref: MedDRA:10034623 {source="Orphanet:86885", source="Orphanet:86885/e"} xref: MEDGEN:38240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D016411 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/e"} +xref: NCIT:C201080 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:86885 {source="MONDO:equivalentTo"} xref: UMLS:C0079774 {source="MEDGEN:38240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder @@ -441355,6 +441496,7 @@ is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="htt property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0019477 @@ -444454,12 +444596,14 @@ synonym: "gonadotroph adenoma" EXACT [Orphanet:91348] xref: GARD:19158 {source="MONDO:GARD"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91348", source="Orphanet:91348/ntbt"} xref: MEDGEN:577353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C45915 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:91348 {source="MONDO:equivalentTo"} xref: SCTID:254960002 {source="MONDO:equivalentTo"} xref: UMLS:C0346304 {source="MEDGEN:577353", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003429 {source="MONDO:Redundant", source="Orphanet:91348"} ! functioning pituitary gland adenoma intersection_of: MONDO:0003429 ! functioning pituitary gland adenoma intersection_of: realized_in GO:0032274 ! gonadotropin secretion +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0019613 @@ -451761,12 +451905,14 @@ synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate synonym: "thymus neuroendocrine tumour" EXACT OMO:0003005 [] xref: GARD:19361 {source="MONDO:GARD"} xref: ICD10CM:D38.4 {source="Orphanet:97289", source="Orphanet:97289/ntbt"} +xref: NCIT:C6430 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} xref: Orphanet:97289 {source="MONDO:equivalentTo"} is_a: MONDO:0005197 {source="MONDO:Redundant", source="ONCOTREE:TNET", source="Orphanet:97289"} ! thymus neoplasm is_a: MONDO:0019496 {source="MONDO:Redundant", source="Orphanet:97289", source="Orphanet:97289/inferred"} ! neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002370 ! thymus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0019965 @@ -453691,9 +453837,11 @@ xref: GARD:19443 {source="MONDO:GARD"} xref: ICD10CM:D47.9 {source="Orphanet:98290", source="Orphanet:98290/ntbt"} xref: icd11.foundation:1678636940 {source="MONDO:equivalentTo", source="Orphanet:98290", source="https://orcid.org/0000-0001-5208-3432"} xref: MEDGEN:1843142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C150672 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:98290 {source="MONDO:equivalentTo"} xref: UMLS:C5681530 {source="MEDGEN:1843142", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0020084 @@ -457008,10 +457156,12 @@ xref: GARD:536 {source="MONDO:GARD"} xref: ICD10CM:C92.5 {source="Orphanet:98829/e", source="Orphanet:98829"} xref: icd11.foundation:808954959 {source="MONDO:equivalentTo"} xref: MEDGEN:1716406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C9287 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:98829 {source="MONDO:equivalentTo"} xref: UMLS:C5395080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716406"} is_a: MONDO:0018874 {source="Orphanet:98829"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22" xsd:anyURI {source="GARD:0000536"} [Term] @@ -460787,9 +460937,11 @@ xref: GARD:16912 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:99818", source="Orphanet:99818/attributed", source="Orphanet:99818/ntbt"} xref: icd11.foundation:813602368 {source="MONDO:equivalentTo"} xref: MEDGEN:1826134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C40464 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:99818 {source="MONDO:equivalentTo"} xref: UMLS:C5681818 {source="MEDGEN:1826134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021055 {source="Orphanet:99818"} ! classic familial adenomatous polyposis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0020498 @@ -463752,10 +463904,12 @@ name: germ cell tumor of the vulva subset: gard_rare {source="MONDO:GARD"} subset: rare xref: MEDGEN:925540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C128294 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: ONCOTREE:VGCT {source="MONDO:equivalentTo"} xref: UMLS:C4288008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925540"} intersection_of: MONDO:0005040 ! germ cell tumor intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0020651 @@ -466726,9 +466880,11 @@ synonym: "dentigerous odontogenic cyst" RELATED [] synonym: "follicular cyst of jaw" RELATED [] xref: MEDGEN:8309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D003803 {source="UMLS:C0011428", source="MONDO:equivalentTo"} +xref: NCIT:C173832 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:9245008 {source="UMLS:C0011428", source="MONDO:equivalentTo"} xref: UMLS:C0011428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8309"} is_a: MONDO:0006328 {source="MESH:D003803"} ! odontogenic cyst +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0020816 @@ -474421,10 +474577,12 @@ synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" RELATED [MESH:D015465] synonym: "Myeloid Leukemia, Chronic, Aggressive-Phase" RELATED [MESH:D015465] xref: MEDGEN:6059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D015465 {source="UMLS:C0023472", source="MONDO:equivalentTo"} +xref: NCIT:C3173 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3173 {source="UMLS:C0023472"} xref: SCTID:413389003 {source="UMLS:C0023472"} xref: UMLS:C0023472 {source="MEDGEN:6059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011996 {source="UMLS:C0023472"} ! chronic myelogenous leukemia, BCR-ABL1 positive +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0021368 @@ -479379,10 +479537,12 @@ synonym: "retroperitoneal cystic lymphangioma" RELATED [GARD:0000439, MESH:C5355 xref: GARD:439 {source="MONDO:GARD"} xref: MEDGEN:419287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535553 {source="MONDO:equivalentTo"} +xref: NCIT:C27508 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C2930929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419287"} is_a: MONDO:0009761 {source="MESH:C535553"} ! cystic hygroma intersection_of: MONDO:0009761 ! cystic hygroma intersection_of: disease_has_location UBERON:0000916 ! abdomen +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma" xsd:anyURI {source="GARD:0000439"} [Term] @@ -480874,12 +481034,14 @@ synonym: "PG - Pyogenic granuloma" RELATED [UMLS:C0085653] synonym: "Pyogenic Granuloma" RELATED [MESH:D017789] xref: MEDGEN:39085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D017789 {source="MONDO:equivalentTo", source="UMLS:C0085653"} +xref: NCIT:C3480 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3480 {source="UMLS:C0085653"} xref: SCTID:17372009 {source="UMLS:C0085653"} xref: SCTID:200722003 {source="MONDO:equivalentTo", source="UMLS:C0085653"} xref: SCTID:39629007 {source="UMLS:C0085653"} xref: UMLS:C0085653 {source="MEDGEN:39085", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0022098 @@ -487663,10 +487825,12 @@ synonym: "littoral cell angioma" RELATED [GARD:0009714, MESH:C537031] xref: GARD:9714 {source="MONDO:GARD"} xref: MEDGEN:351507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537031 {source="MONDO:equivalentTo"} +xref: NCIT:C200524 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: SCTID:418040002 {source="MONDO:equivalentTo"} xref: UMLS:C1627365 {source="MEDGEN:351507", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006500 {source="MESH:C537031", source="MONDO:Redundant"} ! hemangioma relationship: disease_has_location UBERON:0002106 ! spleen +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen" xsd:anyURI {source="GARD:0009714"} [Term] @@ -491606,6 +491770,7 @@ synonym: "schwannomatosis-1, susceptibility to" RELATED [] synonym: "SWNTS1" EXACT ABBREVIATION [OMIM:162091] xref: DOID:0070480 {source="MONDO:equivalentTo"} xref: MEDGEN:887689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C186703 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:162091 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:162091"} xref: UMLS:C4048809 {source="MEDGEN:887689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -491613,6 +491778,7 @@ is_a: MONDO:0008075 {source="DOID:0070480", source="OMIM:162091"} ! schwannomato relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162091"} ! Autosomal dominant inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7663" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0024518 @@ -514314,10 +514480,12 @@ subset: rare xref: DOID:0080892 {source="MONDO:equivalentTo"} xref: GARD:22210 {source="MONDO:GARD"} xref: MEDGEN:927113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129351 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:530792 {source="MONDO:equivalentTo"} xref: UMLS:C4289581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927113"} is_a: MONDO:0000001 {source="Orphanet:530792"} ! disease is_a: MONDO:0003266 {source="Orphanet:530792"} ! ependymal tumor +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0033981 @@ -515280,9 +515448,11 @@ subset: orphanet_rare {source="Orphanet:580572"} subset: rare xref: GARD:22331 {source="MONDO:GARD"} xref: MEDGEN:459415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C95506 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:580572 {source="MONDO:equivalentTo"} xref: UMLS:C2987189 {source="MEDGEN:459415", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021040 {source="MONDO:0018520-obsoleted"} ! pancreatic neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0034989 @@ -529551,10 +529721,12 @@ id: MONDO:0044880 name: cystic tumor of the pancreas comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate +xref: NCIT:C200227 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C41247 {source="ONCOTREE:PACT"} xref: ONCOTREE:PACT {source="MONDO:equivalentTo"} is_a: MONDO:0021076 ! pancreatic exocrine neoplasm property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI property_value: IAO:0006012 "2024-09-01" xsd:string [Term] @@ -535910,9 +536082,11 @@ name: Pericytoma with t(7;12) def: "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." [PMID:15111311] synonym: "Pericytoma t(7;12)" EXACT [] xref: DOID:0080896 {source="MONDO:equivalentTo"} +xref: NCIT:C202896 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0002604 {source="DOID:0080896"} ! pericytic neoplasm property_value: http://purl.org/dc/elements/1.1/date "2018-11-09T22:50:48Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0100064 @@ -536214,12 +536388,14 @@ synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leuke xref: GARD:15329 {source="MONDO:GARD"} xref: MEDGEN:321945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200662 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} +xref: NCIT:C151903 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NORD:1943 {source="MONDO:NORD"} xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} xref: UMLS:C1832388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:321945"} is_a: MONDO:0011071 {source="Orphanet:71290", source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10471 {source="OMIM:601399", source="https://clinicalgenome.org/affiliation/50034/"} ! RUNX1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0100084 @@ -541640,10 +541816,12 @@ synonym: "AML, CEBP Biallelic Gene Mutation" EXACT [] synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [] synonym: "AML, CEBPA Biallelic Mutation" EXACT [] xref: DOID:0081090 {source="MONDO:equivalentTo"} +xref: NCIT:C129782 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C157569 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="DOID:0081090", source="NCIT:C157569"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0100414 @@ -552967,8 +553145,10 @@ id: MONDO:0850101 name: spitzoid melanoma xref: DOID:0070326 {source="MONDO:equivalentTo"} xref: MEDGEN:1713307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C165497 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C3495721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713307"} is_a: MONDO:0005012 {source="DOID:0070326"} ! cutaneous melanoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850102 @@ -553187,9 +553367,11 @@ subset: inferred_rare subset: rare xref: DOID:0080601 {source="MONDO:equivalentTo"} xref: MEDGEN:272358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C6449 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C1332505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272358"} is_a: MONDO:0005040 {source="https://orcid.org/0000-0002-4142-7153"} ! germ cell tumor is_a: MONDO:0005165 {source="DOID:0080601"} ! benign neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850149 @@ -553267,7 +553449,9 @@ def: "A B-lymphoblastic leukemia/lymphoma that has a gene expression profile sim subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080650 {source="MONDO:equivalentTo"} +xref: NCIT:C129787 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0004947 {source="DOID:0080650"} ! B-cell acute lymphoblastic leukemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850162 @@ -553276,7 +553460,9 @@ def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080651 {source="MONDO:equivalentTo"} +xref: NCIT:C130039 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0004947 {source="DOID:0080651"} ! B-cell acute lymphoblastic leukemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850170 @@ -553298,8 +553484,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080702 {source="MONDO:equivalentTo"} xref: MEDGEN:1392356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129440 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4331965 {source="MEDGEN:1392356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007959 {source="DOID:0080702"} ! medulloblastoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850197 @@ -553309,8 +553497,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080703 {source="MONDO:equivalentTo"} xref: MEDGEN:1375478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129441 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4330671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1375478"} is_a: MONDO:0007959 {source="DOID:0080703"} ! medulloblastoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850198 @@ -553320,8 +553510,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080706 {source="MONDO:equivalentTo"} xref: MEDGEN:1387799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129444 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4330667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1387799"} is_a: MONDO:0007959 {source="DOID:0080706"} ! medulloblastoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850199 @@ -553454,8 +553646,10 @@ name: mammary analog secretory carcinoma def: "A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene." [DOID:0080808] xref: DOID:0080808 {source="MONDO:equivalentTo"} xref: MEDGEN:875770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C123384 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4042906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:875770"} is_a: MONDO:0000521 {source="DOID:0080808"} ! salivary gland carcinoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850282 @@ -553620,7 +553814,9 @@ def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes." [DOID: subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080876 {source="MONDO:equivalentTo"} +xref: NCIT:C129291 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0016684 {source="DOID:0080876"} ! anaplastic astrocytoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850335 @@ -553629,7 +553825,9 @@ def: "A glioblastoma that is characterized by high cellularity, high mitotic act subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080878 {source="MONDO:equivalentTo"} +xref: NCIT:C39750 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0018177 {source="DOID:0080878"} ! glioblastoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850338 @@ -553639,8 +553837,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080888 {source="MONDO:equivalentTo"} xref: MEDGEN:1806198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C186494 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5670583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1806198"} is_a: MONDO:0003473 {source="DOID:0080888"} ! spinal cord ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850339 @@ -553879,7 +554079,9 @@ def: "An acute biphenotypic leukemia that is characterized by blasts that expres subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081039 {source="MONDO:equivalentTo"} +xref: NCIT:C82213 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0020322 {source="DOID:0081039"} ! acute biphenotypic leukemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0850459 @@ -554092,9 +554294,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081244 {source="MONDO:equivalentTo"} xref: MEDGEN:1656462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C155304 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4743978 {source="MEDGEN:1656462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002109 {source="DOID:0081244"} ! pituitary cancer is_a: MONDO:0005565 {source="DOID:0081244"} ! blastoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0858917 @@ -554131,10 +554335,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081277 {source="MONDO:equivalentTo"} xref: MEDGEN:1808288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C185467 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5669918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808288"} is_a: MONDO:0100342 {source="DOID:0081277"} ! malignant glioma is_a: MONDO:1010030 {source="https://orcid.org/0000-0002-5002-8648"} ! pediatric high-grade glioma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0858940 @@ -554184,8 +554390,10 @@ name: multinodular and vacuolating neuronal tumor def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres." [DOID:0081303] xref: DOID:0081303 {source="MONDO:equivalentTo"} xref: MEDGEN:1372723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129427 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4330721 {source="MEDGEN:1372723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000628 {source="DOID:0081303"} ! central nervous system organ benign neoplasm +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0858958 @@ -554195,8 +554403,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081304 {source="MONDO:equivalentTo"} xref: MEDGEN:1812304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C185879 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5670122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812304"} is_a: MONDO:0016684 {source="DOID:0081304"} ! anaplastic astrocytoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0858959 @@ -554321,9 +554531,11 @@ subset: ordo_disorder {source="Orphanet:631251"} subset: orphanet_rare {source="Orphanet:631251"} subset: rare xref: MEDGEN:113094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C8566 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:631251 {source="MONDO:equivalentTo"} xref: UMLS:C0220647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113094"} is_a: MONDO:0004992 {source="Orphanet:631251", source="https://orcid.org/0000-0001-5208-3432"} ! cancer +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0858998 @@ -557255,8 +557467,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080830 {source="MONDO:equivalentTo"} xref: MEDGEN:1861125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C202299 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5908420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1861125"} is_a: MONDO:0021637 {source="DOID:0080830"} ! low grade glioma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0859592 @@ -557266,9 +557480,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080882 {source="MONDO:equivalentTo"} xref: MEDGEN:926090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129318 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4288558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:926090"} is_a: MONDO:0016696 {source="DOID:0080882"} ! anaplastic oligodendroglioma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0859597 @@ -557277,8 +557493,10 @@ def: "A central nervous system neuroblastoma that is characterized by FOXR2 acti subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080906 {source="MONDO:equivalentTo"} +xref: NCIT:C186547 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0002900 {source="DOID:0080906"} ! cerebral neuroblastoma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0859598 @@ -557300,7 +557518,9 @@ def: "A low grade glioma that is characterized by a gene alteration that results subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081260 {source="MONDO:equivalentTo"} +xref: NCIT:C185218 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0021637 {source="DOID:0081260"} ! low grade glioma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0859615 @@ -557447,7 +557667,9 @@ def: "A medulloblastoma SHH activated that is characterized as a molecular subty subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080704 {source="MONDO:equivalentTo"} +xref: NCIT:C129442 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850197 {source="DOID:0080704"} ! medulloblastoma SHH activated +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956965 @@ -557456,7 +557678,9 @@ def: "A medulloblastoma SHH activated that is characterized as a molecular subty subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080705 {source="MONDO:equivalentTo"} +xref: NCIT:C129443 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850197 {source="DOID:0080705"} ! medulloblastoma SHH activated +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956966 @@ -557466,8 +557690,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080707 {source="MONDO:equivalentTo"} xref: MEDGEN:1389944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129445 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4330665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1389944"} is_a: MONDO:0850198 {source="DOID:0080707"} ! medulloblastoma non-WNT/non-SHH +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956967 @@ -557477,8 +557703,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080708 {source="MONDO:equivalentTo"} xref: MEDGEN:1377534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C129446 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C4330666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1377534"} is_a: MONDO:0850198 {source="DOID:0080708"} ! medulloblastoma non-WNT/non-SHH +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956969 @@ -557570,8 +557798,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0080891 {source="MONDO:equivalentTo"} xref: MEDGEN:1810688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C186355 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C5670480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810688"} is_a: MONDO:0850340 {source="DOID:0080891"} ! supratentorial ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956985 @@ -557623,7 +557853,9 @@ def: "A suptratentorial ependymoma that is characterized by the presence of a fu subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081252 {source="MONDO:equivalentTo"} +xref: NCIT:C186350 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850340 {source="DOID:0081252"} ! supratentorial ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956991 @@ -557632,7 +557864,9 @@ def: "A supratentorial ependymoma that is characterized by the presence of a fus subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081253 {source="MONDO:equivalentTo"} +xref: NCIT:C186351 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850340 {source="DOID:0081253"} ! supratentorial ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956992 @@ -557641,7 +557875,9 @@ def: "A posterior fossa ependymoma that arises in the posterior fossa with chara subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081254 {source="MONDO:equivalentTo"} +xref: NCIT:C186450 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850339 {source="DOID:0081254"} ! posterior fossa ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956993 @@ -557650,7 +557886,9 @@ def: "A posterior fossa ependymoma that arises in the posterior fossa with chara subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0081255 {source="MONDO:equivalentTo"} +xref: NCIT:C186451 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} is_a: MONDO:0850339 {source="DOID:0081255"} ! posterior fossa ependymoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0956994 @@ -560382,8 +560620,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:652650"} subset: orphanet_rare {source="Orphanet:652650"} subset: rare +xref: NCIT:C80375 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:652650 {source="MONDO:equivalentTo"} is_a: MONDO:0015760 {source="Orphanet:652650"} ! T-cell non-Hodgkin lymphoma +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8567" xsd:anyURI [Term] id: MONDO:0958096