diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 35520e11..3b3b1533 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index b10f3c3c..4ee6e98d 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 32d4b2fa..02d19c3b 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index c728a719..b4bd0b60 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 31bac8e8..377dcee4 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 7a54390c..c98c7d7b 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index d5ee81ac..3546ed8d 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 21 | -| Axioms | 356115 | -| Logical axioms | 26262 | -| Classes | 23005 | +| Axioms | 356172 | +| Logical axioms | 26272 | +| Classes | 23008 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,17 +32,17 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 306822 | +| AnnotationAssertion | 306866 | | SubAnnotationPropertyOf | 2 | -| Declaration | 23029 | -| SubClassOf | 26262 | +| Declaration | 23032 | +| SubClassOf | 26272 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 21566 | +| prefix_unknown | 21569 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | @@ -62,8 +62,8 @@ | Metric | Value | | ------ | ----- | -| Class | 75522 | -| ObjectSomeValuesFrom | 21301 | +| Class | 75545 | +| ObjectSomeValuesFrom | 21308 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index b8f80e14..a71a01fe 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/ordo.owl ### Entities and axioms diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index d21d7da3..07d15e0b 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -22,7 +22,7 @@ | MONDO:0975810 | short stature with nonspecific skeletal abnormalities | OMIMPS:616255 | MONDO:equivalentTo | Short stature with nonspecific skeletal abnormalities | | | | MONDO:0975826 | arthrogryposis multiplex congenita 7, x-linked | OMIM:301127 | MONDO:equivalentTo | arthrogryposis multiplex congenita 7, X-linked | | MONDO:0015168 | | MONDO:0975827 | orofaciodigital syndrome 21 | OMIM:301132 | MONDO:equivalentTo | orofaciodigital syndrome 21 | | MONDO:0015375 | -| MONDO:0975828 | intellectual developmental disorder, x-linked 114 | OMIM:301134 | MONDO:equivalentTo | intellectual developmental disorder, X-linked 114 | | | +| MONDO:0975828 | intellectual developmental disorder, x-linked 114 | OMIM:301134 | MONDO:equivalentTo | intellectual developmental disorder, X-linked 114 | | MONDO:0019181 | | MONDO:0975829 | anemia, congenital dyserythropoietic, type ivb | OMIM:620969 | MONDO:equivalentTo | anemia, congenital dyserythropoietic, type ivb | | MONDO:0019403 | | MONDO:0975830 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | OMIM:620971 | MONDO:equivalentTo | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | | | | MONDO:0975831 | blood group, anton system | OMIM:620975 | MONDO:equivalentTo | blood group, anton system | | | @@ -36,6 +36,6 @@ | MONDO:0975839 | pancreatic agenesis 3 | OMIM:620991 | MONDO:equivalentTo | pancreatic agenesis 3 | | MONDO:0009832 | | MONDO:0975840 | retinitis pigmentosa 98 | OMIM:620996 | MONDO:equivalentTo | retinitis pigmentosa 98 | | MONDO:0019200 | | MONDO:0975841 | fibromatosis, gingival, 6 | OMIM:620999 | MONDO:equivalentTo | fibromatosis, gingival, 6 | | MONDO:0016070 | -| MONDO:0975842 | spermatogenic failure 96 | OMIM:621001 | MONDO:equivalentTo | spermatogenic failure 96 | | | -| MONDO:0975843 | premature ovarian failure 25 | OMIM:621002 | MONDO:equivalentTo | premature ovarian failure 25 | | | +| MONDO:0975842 | spermatogenic failure 96 | OMIM:621001 | MONDO:equivalentTo | spermatogenic failure 96 | | MONDO:0004983 | +| MONDO:0975843 | premature ovarian failure 25 | OMIM:621002 | MONDO:equivalentTo | premature ovarian failure 25 | | MONDO:0019852 | | MONDO:0975844 | acth-independent macronodular adrenal hyperplasia | OMIMPS:219080 | MONDO:equivalentTo | ACTH-independent macronodular adrenal hyperplasia | | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 8afa7d5b..9cd1c8df 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -8,7 +8,7 @@ | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | | [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,256 | 9,291 | 9,214 | 77 | 0.8% | | [DOID](./unmapped_doid.md) | 14,172 | 2,660 | 2,488 | 2,478 | 11,510 | 11,457 | 53 | 0.5% | -| [OMIM](./unmapped_omim.md) | 29,532 | 19,371 | 1,367 | 1,324 | 8,795 | 8,758 | 37 | 0.4% | +| [OMIM](./unmapped_omim.md) | 29,537 | 19,376 | 1,367 | 1,324 | 8,795 | 8,758 | 37 | 0.4% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 01677ddd..30a2e948 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/638c7360-1045-42e9-ad3f-2b89da705226 +# mapping_set_id: https://w3id.org/sssom/mappings/0a81d7f9-31b9-4e12-90ac-b2ec378b7e3f subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index fec1b452..dc4ba1db 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/2c109aa8-08fe-4f70-97c2-e0e898d430d4 +# mapping_set_id: https://w3id.org/sssom/mappings/7181634f-e0fd-4df0-9134-98884172d804 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index ab1342bd..b11a1d27 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/56361ca8-483d-42a3-9992-233a0ac947f2 +# mapping_set_id: https://w3id.org/sssom/mappings/e2665dc1-fe61-42ee-ac4e-439aeededd13 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index 524ad663..cec32f9b 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/bb416a7b-9ff4-4ca8-aad4-3e284ffaf6cb +# mapping_set_id: https://w3id.org/sssom/mappings/5e66dbb7-0a1c-4e91-96ee-a5672357651f diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index a9d32e9c..08c104bb 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/7ee7aad3-4c30-4d6f-b5b6-bf7df88adc74 +# mapping_set_id: https://w3id.org/sssom/mappings/edb09e28-49e0-4b78-af29-dcec3ac5763f # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index a1290090..38a34f82 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/67925cc6-35a2-4a81-ba84-68743f1a17b3 +# mapping_set_id: https://w3id.org/sssom/mappings/08db7978-fe7e-439d-af53-934ffa8a7c9d subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index a834975d..cfa97ae5 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -26236,6 +26236,9 @@ OMIM:301130 RTL3 skos:exactMatch ncbigene:203430 semapv:UnspecifiedMatching OMIM:301131 RTL4 skos:exactMatch hgnc.symbol:25214 semapv:UnspecifiedMatching OMIM:301131 RTL4 skos:exactMatch hgnc.symbol:RTL4 semapv:UnspecifiedMatching OMIM:301131 RTL4 skos:exactMatch ncbigene:340595 semapv:UnspecifiedMatching +OMIM:301135 RTL5 skos:exactMatch hgnc.symbol:29430 semapv:UnspecifiedMatching +OMIM:301135 RTL5 skos:exactMatch hgnc.symbol:RTL5 semapv:UnspecifiedMatching +OMIM:301135 RTL5 skos:exactMatch ncbigene:340526 semapv:UnspecifiedMatching OMIM:301200 amelogenesis imperfecta, type 1e skos:exactMatch MONDO:0010521 semapv:UnspecifiedMatching OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch MONDO:0010522 semapv:UnspecifiedMatching OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch hgnc.symbol:AIH3 semapv:UnspecifiedMatching @@ -81866,6 +81869,15 @@ OMIM:620998 ZNF230 skos:exactMatch ncbigene:7773 semapv:UnspecifiedMatching OMIM:621000 SNX18 skos:exactMatch hgnc.symbol:19245 semapv:UnspecifiedMatching OMIM:621000 SNX18 skos:exactMatch hgnc.symbol:SNX18 semapv:UnspecifiedMatching OMIM:621000 SNX18 skos:exactMatch ncbigene:112574 semapv:UnspecifiedMatching +OMIM:621003 SP9 skos:exactMatch hgnc.symbol:30690 semapv:UnspecifiedMatching +OMIM:621003 SP9 skos:exactMatch hgnc.symbol:SP9 semapv:UnspecifiedMatching +OMIM:621003 SP9 skos:exactMatch ncbigene:100131390 semapv:UnspecifiedMatching +OMIM:621005 SBSPON skos:exactMatch hgnc.symbol:30362 semapv:UnspecifiedMatching +OMIM:621005 SBSPON skos:exactMatch hgnc.symbol:SBSPON semapv:UnspecifiedMatching +OMIM:621005 SBSPON skos:exactMatch ncbigene:157869 semapv:UnspecifiedMatching +OMIM:621006 RTL6 skos:exactMatch hgnc.symbol:13343 semapv:UnspecifiedMatching +OMIM:621006 RTL6 skos:exactMatch hgnc.symbol:RTL6 semapv:UnspecifiedMatching +OMIM:621006 RTL6 skos:exactMatch ncbigene:84247 semapv:UnspecifiedMatching OMIMPS:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching OMIMPS:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching OMIMPS:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index 85a3fa74..4262b524 100644 --- a/src/ontology/external/mondo-omim-genes.robot.owl +++ b/src/ontology/external/mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 0f2e9cc6..ccb0474f 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 6205c169..4c545ec7 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -6120,6 +6120,20 @@ + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index cc073b3d..2ef190e5 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -9712,6 +9712,7 @@ MONDO:0005198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005153 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005136 NORD:1395 MONDO:NORD NORD:1395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1395 MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 488a4a03..ac1b8a18 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 5298b069..b386ca74 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-09") +Annotation(owl:versionInfo "2024-11-11") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 6fd95a44..91a2818f 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-09") +Annotation(owl:versionInfo "2024-11-11") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index fd119cf5..6203432f 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -32,27 +32,27 @@ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 865 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 865 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 82 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 124 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 270 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 4 * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 91 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 270 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6229 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 463 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2379 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6229 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6085 - * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1710 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7 + * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6085 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 82 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 124 * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 2 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 301f0489..ac74b0ff 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index ff94e1f7..ae4653e7 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index f2f1f648..d7347c87 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index bd0c0e6e..26468fde 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 4581d14c..5427be64 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 37358b5f..c6df5460 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 058c99e8..e53b6c46 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 21, "annotation_property_count_incl": 21, - "axiom_count": 356115, - "axiom_count_incl": 356115, - "class_count": 23005, - "class_count_incl": 23005, + "axiom_count": 356172, + "axiom_count_incl": 356172, + "class_count": 23008, + "class_count_incl": 23008, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 26262, - "logical_axiom_count_incl": 26262, + "logical_axiom_count": 26272, + "logical_axiom_count_incl": 26272, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 23035, - "signature_entity_count_incl": 23035, + "signature_entity_count": 23038, + "signature_entity_count_incl": 23038, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 26262, - "tbox_axiom_count_incl": 26262, - "tboxrbox_axiom_count": 26262, - "tboxrbox_axiom_count_incl": 26262, + "tbox_axiom_count": 26272, + "tbox_axiom_count_incl": 26272, + "tboxrbox_axiom_count": 26272, + "tboxrbox_axiom_count_incl": 26272, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 306822, + "AnnotationAssertion": 306866, "SubAnnotationPropertyOf": 2, - "Declaration": 23029, - "SubClassOf": 26262 + "Declaration": 23032, + "SubClassOf": 26272 }, "axiom_type_count_incl": { - "AnnotationAssertion": 306822, + "AnnotationAssertion": 306866, "SubAnnotationPropertyOf": 2, - "Declaration": 23029, - "SubClassOf": 26262 + "Declaration": 23032, + "SubClassOf": 26272 }, "class_expression_count": { - "Class": 75522, - "ObjectSomeValuesFrom": 21301 + "Class": 75545, + "ObjectSomeValuesFrom": 21308 }, "class_expression_count_incl": { - "Class": 75522, - "ObjectSomeValuesFrom": 21301 + "Class": 75545, + "ObjectSomeValuesFrom": 21308 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -100,37 +100,37 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 98443, - "oboInOwl": 115152, + "prefix_unknown": 98464, + "oboInOwl": 115174, "owl": 1367, - "skos": 82432, - "rdfs": 40275, - "CHR": 7586, + "skos": 82444, + "rdfs": 40284, + "CHR": 7588, "OMO": 1, - "MONDO": 19156, - "rdf": 21094, + "MONDO": 19161, + "rdf": 21098, "IAO": 55208, - "biolink": 37110, - "RO": 21308, + "biolink": 37119, + "RO": 21315, "obo": 2346 }, "namespace_axiom_count_incl": { - "prefix_unknown": 98443, - "oboInOwl": 115152, + "prefix_unknown": 98464, + "oboInOwl": 115174, "owl": 1367, - "skos": 82432, - "rdfs": 40275, - "CHR": 7586, + "skos": 82444, + "rdfs": 40284, + "CHR": 7588, "OMO": 1, - "MONDO": 19156, - "rdf": 21094, + "MONDO": 19161, + "rdf": 21098, "IAO": 55208, - "biolink": 37110, - "RO": 21308, + "biolink": 37119, + "RO": 21315, "obo": 2346 }, "namespace_entity_count": { - "prefix_unknown": 21566, + "prefix_unknown": 21569, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -146,7 +146,7 @@ "obo": 3 }, "namespace_entity_count_incl": { - "prefix_unknown": 21566, + "prefix_unknown": 21569, "oboInOwl": 4, "owl": 2, "xsd": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 784436ac..7ce59610 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-11/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 019eb590..e5d4f7b4 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -222,6 +222,7 @@ + @@ -10371,6 +10372,7 @@ + @@ -19541,6 +19543,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index a05817eb..8cf88d89 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -222,6 +222,7 @@ + @@ -12257,6 +12258,7 @@ + @@ -33800,6 +33802,10 @@ + + + + diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index f6800d4c..8ba75997 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -3153,6 +3153,7 @@ OMIM:301128 MONDO:excludeGene OMIM:301129 MONDO:excludeGene OMIM:301130 MONDO:excludeGene OMIM:301131 MONDO:excludeGene +OMIM:301135 MONDO:excludeGene OMIM:301300 MONDO:excludeGene OMIM:301770 MONDO:excludeGene OMIM:301780 MONDO:excludeGene @@ -17671,6 +17672,10 @@ OMIM:620995 MONDO:excludeGene OMIM:620997 MONDO:excludeGene OMIM:620998 MONDO:excludeGene OMIM:621000 MONDO:excludeGene +OMIM:621003 MONDO:excludeGene +OMIM:621005 MONDO:excludeGene +OMIM:621006 MONDO:excludeGene +OMIM:621007 MONDO:excludeGene OMIMPS:151623 MONDO:excludeGrouping OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease @@ -19435,7 +19440,6 @@ OMIM:300995 MONDO:excludeNonDisease OMIM:300996 MONDO:excludeNonDisease OMIM:300999 MONDO:excludeNonDisease OMIM:301001 MONDO:excludeNonDisease -OMIM:301002 MONDO:excludeNonDisease OMIM:301003 MONDO:excludeNonDisease OMIM:301004 MONDO:excludeNonDisease OMIM:301005 MONDO:excludeNonDisease @@ -19492,6 +19496,7 @@ OMIM:301128 MONDO:excludeNonDisease OMIM:301129 MONDO:excludeNonDisease OMIM:301130 MONDO:excludeNonDisease OMIM:301131 MONDO:excludeNonDisease +OMIM:301135 MONDO:excludeNonDisease OMIM:301780 MONDO:excludeNonDisease OMIM:302020 MONDO:excludeNonDisease OMIM:302650 MONDO:excludeNonDisease @@ -28615,7 +28620,6 @@ OMIM:617653 MONDO:excludeNonDisease OMIM:617655 MONDO:excludeNonDisease OMIM:617656 MONDO:excludeNonDisease OMIM:617657 MONDO:excludeNonDisease -OMIM:617673 MONDO:excludeNonDisease OMIM:617674 MONDO:excludeNonDisease OMIM:617676 MONDO:excludeNonDisease OMIM:617677 MONDO:excludeNonDisease @@ -30124,6 +30128,10 @@ OMIM:620995 MONDO:excludeNonDisease OMIM:620997 MONDO:excludeNonDisease OMIM:620998 MONDO:excludeNonDisease OMIM:621000 MONDO:excludeNonDisease +OMIM:621003 MONDO:excludeNonDisease +OMIM:621005 MONDO:excludeNonDisease +OMIM:621006 MONDO:excludeNonDisease +OMIM:621007 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -35002,6 +35010,7 @@ OMIM:301128 MONDO:nonDisease OMIM:301129 MONDO:nonDisease OMIM:301130 MONDO:nonDisease OMIM:301131 MONDO:nonDisease +OMIM:301135 MONDO:nonDisease OMIM:301300 MONDO:nonDisease OMIM:301770 MONDO:nonDisease OMIM:301780 MONDO:nonDisease @@ -49334,3 +49343,7 @@ OMIM:620995 MONDO:nonDisease OMIM:620997 MONDO:nonDisease OMIM:620998 MONDO:nonDisease OMIM:621000 MONDO:nonDisease +OMIM:621003 MONDO:nonDisease +OMIM:621005 MONDO:nonDisease +OMIM:621006 MONDO:nonDisease +OMIM:621007 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index afeae228..838bd567 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -4553,6 +4553,7 @@ OMIM:301128 TRMT2B False True False OMIM:301129 SATL1 False True False OMIM:301130 RTL3 False True False OMIM:301131 RTL4 False True False +OMIM:301135 RTL5 False True False OMIM:301300 ALAS2 False True False OMIM:301770 ARR3 False True False OMIM:301780 ARSC2 False True False @@ -19118,6 +19119,10 @@ OMIM:620995 SETD4 False True False OMIM:620997 SEMA3G False True False OMIM:620998 ZNF230 False True False OMIM:621000 SNX18 False True False +OMIM:621003 SP9 False True False +OMIM:621005 SBSPON False True False +OMIM:621006 RTL6 False True False +OMIM:621007 ZNF800 False True False OMIMPS:151623 Li-Fraumeni syndrome False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 0b238811..38cf0aa2 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -4379,6 +4379,7 @@ OMIM:301128 OMIM:301129 OMIM:301130 OMIM:301131 +OMIM:301135 OMIM:301300 OMIM:301410 OMIM:301700 @@ -19368,4 +19369,8 @@ OMIM:620995 OMIM:620997 OMIM:620998 OMIM:621000 +OMIM:621003 +OMIM:621005 +OMIM:621006 +OMIM:621007 OMIMPS:151623 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index c023c240..be339c25 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -17,7 +17,7 @@ MONDO:0975809 microphthalmia/coloboma 13 OMIM:620968 MONDO:equivalentTo micropht MONDO:0975810 short stature with nonspecific skeletal abnormalities OMIMPS:616255 MONDO:equivalentTo Short stature with nonspecific skeletal abnormalities MONDO:0975826 arthrogryposis multiplex congenita 7, x-linked OMIM:301127 MONDO:equivalentTo arthrogryposis multiplex congenita 7, X-linked MONDO:0015168 MONDO:0975827 orofaciodigital syndrome 21 OMIM:301132 MONDO:equivalentTo orofaciodigital syndrome 21 MONDO:0015375 -MONDO:0975828 intellectual developmental disorder, x-linked 114 OMIM:301134 MONDO:equivalentTo intellectual developmental disorder, X-linked 114 +MONDO:0975828 intellectual developmental disorder, x-linked 114 OMIM:301134 MONDO:equivalentTo intellectual developmental disorder, X-linked 114 MONDO:0019181 MONDO:0975829 anemia, congenital dyserythropoietic, type ivb OMIM:620969 MONDO:equivalentTo anemia, congenital dyserythropoietic, type ivb MONDO:0019403 MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 OMIM:620971 MONDO:equivalentTo myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 MONDO:0975831 blood group, anton system OMIM:620975 MONDO:equivalentTo blood group, anton system @@ -31,6 +31,6 @@ MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 OMIM:62 MONDO:0975839 pancreatic agenesis 3 OMIM:620991 MONDO:equivalentTo pancreatic agenesis 3 MONDO:0009832 MONDO:0975840 retinitis pigmentosa 98 OMIM:620996 MONDO:equivalentTo retinitis pigmentosa 98 MONDO:0019200 MONDO:0975841 fibromatosis, gingival, 6 OMIM:620999 MONDO:equivalentTo fibromatosis, gingival, 6 MONDO:0016070 -MONDO:0975842 spermatogenic failure 96 OMIM:621001 MONDO:equivalentTo spermatogenic failure 96 -MONDO:0975843 premature ovarian failure 25 OMIM:621002 MONDO:equivalentTo premature ovarian failure 25 +MONDO:0975842 spermatogenic failure 96 OMIM:621001 MONDO:equivalentTo spermatogenic failure 96 MONDO:0004983 +MONDO:0975843 premature ovarian failure 25 OMIM:621002 MONDO:equivalentTo premature ovarian failure 25 MONDO:0019852 MONDO:0975844 acth-independent macronodular adrenal hyperplasia OMIMPS:219080 MONDO:equivalentTo ACTH-independent macronodular adrenal hyperplasia diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index 1d8efabf..5467d5f4 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -1535,6 +1535,12 @@ + + + + + + @@ -142533,6 +142539,39 @@ + + + + + + + + + + + + + + + + SRPK3 + muscle-specific serine kinase 1 + protein kinase, arginine/serine-rich splicing factor, 3 + protein kinase, serine/arginine-specific, 3 + srsf protein kinase 3 + stk23 + SRPK3 + + + + + + SRPK3 + + + + + @@ -144310,6 +144349,19 @@ + + + + + + + + + + + + + XLID114 intellectual developmental disorder, X-linked 114 intellectual developmental disorder, X-linked 114 @@ -370809,6 +370861,40 @@ + + + + + + + + + + + + + + + + + + + + + + SPATA22 + spermatogenesis-associated protein 22 + SPATA22 + + + + + SPATA22 + + + + + @@ -416196,6 +416282,7 @@ + SPGF96 spermatogenic failure 96 spermatogenic failure 96 @@ -416212,6 +416299,7 @@ + POF25 premature ovarian failure 25 premature ovarian failure 25