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saved mondo after the import (#7891)
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sabrinatoro committed Jul 1, 2024
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Showing 1 changed file with 16 additions and 16 deletions.
32 changes: 16 additions & 16 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -1990,7 +1990,7 @@ xref: UMLS:C1291245 {source="MONDO:equivalentTo", source="MEDGEN:266223", source
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 {source="DOID:0090139", source="Orphanet:168588/inferred"} ! endocrine system disorder
is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome
relationship: disease_disrupts GO:0003845 {source="PMID:21325058", source="https://orcid.org/0000-0002-6601-2165"} ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
relationship: disease_disrupts GO:0003845 {source="PMID:21325058", source="https://orcid.org/0000-0002-6601-2165"} ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:604931"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6753" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency" xsd:anyURI {source="GARD:0009882"}
Expand Down Expand Up @@ -257709,7 +257709,7 @@ is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="MON
is_a: MONDO:0019052 {source="NCIT:C131849"} ! inborn errors of metabolism
intersection_of: MONDO:0000193 ! cortisone reductase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 ! H6PD
relationship: disease_disrupts GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
relationship: disease_disrupts GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4795 {source="MONDO:mim2gene_medgen"} ! H6PD

[Term]
Expand Down Expand Up @@ -294381,7 +294381,7 @@ xref: UMLS:C0268468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source=
is_a: MONDO:0016812 {source="MONDO:Redundant", source="Orphanet:70594"} ! dopa-responsive dystonia
is_a: MONDO:0044807 {source="DOID:0111168", source="MONDO:indirect"} ! inherited dystonia
intersection_of: MONDO:0016812 ! dopa-responsive dystonia
intersection_of: disease_has_basis_in_disruption_of GO:0004757 ! sepiapterin reductase activity
intersection_of: disease_has_basis_in_disruption_of GO:0004757 ! sepiapterin reductase (NADP+) activity
relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11257 {source="MONDO:mim2gene_medgen"} ! SPR

Expand Down Expand Up @@ -315557,7 +315557,7 @@ xref: UMLS:C3553382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source=
is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="MONDO:Redundant", source="OMIM:614662", source="Orphanet:168588/btnt"} ! cortisone reductase deficiency
intersection_of: MONDO:0000193 ! cortisone reductase deficiency
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 ! HSD11B1
relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5208 {source="MONDO:mim2gene_medgen"} ! HSD11B1

[Term]
Expand Down Expand Up @@ -433146,7 +433146,7 @@ is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:
is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease
intersection_of: MONDO:0000001 ! disease
intersection_of: MONDO:0019052 ! inborn errors of metabolism
intersection_of: disease_has_basis_in_disruption_of GO:0006547 ! histidine metabolic process
intersection_of: disease_has_basis_in_disruption_of GO:0006547 ! L-histidine metabolic process
relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79181", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5364" xsd:anyURI
Expand Down Expand Up @@ -533620,7 +533620,7 @@ xref: Orphanet:2609 {source="MONDO:equivalentTo"}
xref: UMLS:C1838979 {source="MEDGEN:374101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000066 ! mitochondrial complex deficiency
intersection_of: MONDO:0000001 ! disease
intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! mitochondrial respiratory chain complex I
intersection_of: disease_has_basis_in_dysfunction_of GO:0005747 ! obsolete mitochondrial respiratory chain complex I
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency" xsd:anyURI {xref="GARD:0003908"}

Expand Down Expand Up @@ -569692,9 +569692,9 @@ def: "Amyloidosis that occurs in domestic goose." [MONDO:patterns/nonhuman_disea
xref: OMIA:000037-8843 {source="MONDO:equivalentTo"}
is_a: MONDO:1011415 {source="OMIA:000037", source="https://orcid.org/0000-0002-5002-8648"} ! amyloidosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:8843
intersection_of: in_taxon NCBITaxon:8843 ! Anser anser
intersection_of: MONDO:0700097 MONDO:0019065 ! cross-species analog amyloidosis
relationship: in_taxon NCBITaxon:8843 {source="OMIA:000037-8843", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:8843 {source="OMIA:000037-8843", source="https://orcid.org/0000-0002-5002-8648"} ! Anser anser
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
Expand Down Expand Up @@ -570280,10 +570280,10 @@ def: "Glycogen storage disease that occurs in ring-tailed coati." [MONDO:pattern
xref: OMIA:001883-9651 {source="MONDO:equivalentTo"}
is_a: MONDO:1011419 {source="OMIA:001883", source="https://orcid.org/0000-0002-5002-8648"} ! glycogen storage disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9651
intersection_of: in_taxon NCBITaxon:9651 ! Nasua nasua
intersection_of: MONDO:0700097 MONDO:0002412 ! cross-species analog disorder of glycogen metabolism
relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
relationship: in_taxon NCBITaxon:9651 {source="OMIA:001883-9651", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:9651 {source="OMIA:001883-9651", source="https://orcid.org/0000-0002-5002-8648"} ! Nasua nasua
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
Expand Down Expand Up @@ -570573,9 +570573,9 @@ def: "Ichthyosis that occurs in greater kudu." [MONDO:patterns/nonhuman_disease]
xref: OMIA:001993-9946 {source="MONDO:equivalentTo"}
is_a: MONDO:1011427 {source="OMIA:001993", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9946
intersection_of: in_taxon NCBITaxon:9946 ! Tragelaphus strepsiceros
intersection_of: MONDO:0700097 MONDO:0019269 ! cross-species analog ichthyosis
relationship: in_taxon NCBITaxon:9946 {source="OMIA:001993-9946", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:9946 {source="OMIA:001993-9946", source="https://orcid.org/0000-0002-5002-8648"} ! Tragelaphus strepsiceros
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
Expand Down Expand Up @@ -570696,9 +570696,9 @@ def: "Legg-Calvé-Perthes disease that occurs in lesser panda." [MONDO:patterns/
xref: OMIA:000586-9649 {source="MONDO:equivalentTo"}
is_a: MONDO:1011453 {source="OMIA:000586", source="https://orcid.org/0000-0002-5002-8648"} ! Legg-Calvé-Perthes disease, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:9649
intersection_of: in_taxon NCBITaxon:9649 ! Ailurus fulgens
intersection_of: MONDO:0700097 MONDO:0007885 ! cross-species analog Legg-Calve-Perthes disease
relationship: in_taxon NCBITaxon:9649 {source="OMIA:000586-9649", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:9649 {source="OMIA:000586-9649", source="https://orcid.org/0000-0002-5002-8648"} ! Ailurus fulgens
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
Expand Down Expand Up @@ -571308,9 +571308,9 @@ def: "Type 2 diabetes mellitus that occurs in Chinese hamster." [MONDO:patterns/
xref: OMIA:000284-10029 {source="MONDO:equivalentTo"}
is_a: MONDO:1011402 {source="OMIA:000284", source="https://orcid.org/0000-0002-5002-8648"} ! type 2 diabetes mellitus, non-human animal
intersection_of: MONDO:0005583 ! non-human animal disease
intersection_of: in_taxon NCBITaxon:10029
intersection_of: in_taxon NCBITaxon:10029 ! Cricetulus griseus
intersection_of: MONDO:0700097 MONDO:0005148 ! cross-species analog type 2 diabetes mellitus
relationship: in_taxon NCBITaxon:10029 {source="OMIA:000284-10029", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:10029 {source="OMIA:000284-10029", source="https://orcid.org/0000-0002-5002-8648"} ! Cricetulus griseus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI

[Term]
Expand Down

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