Skip to content

Commit

Permalink
Merge pull request #4414 from monarch-initiative/issue-4387
Browse files Browse the repository at this point in the history 
fix source annotations
  • Loading branch information
@nicolevasilevsky
nicolevasilevsky committed Feb 4, 2022
2 parents 9af4e78 + 0c5966b commit b7ac9d5
Showing 1 changed file with 9 additions and 9 deletions.
18 changes: 9 additions & 9 deletions src/ontology/mondo-edit.obo
View file
Original file line number Diff line number Diff line change
Expand Up @@ -291794,7 +291794,7 @@ is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
intersection_of: MONDO:0015452 ! Coffin-Siris syndrome
intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11109 ! SMARCE1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11109 {source="OMIM:616938|https://orcid.org/0000-0001-7451-4467|PMID:30580808", source="mim2gene_medgen"} ! SMARCE1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11109 {source="OMIM:616938", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCE1
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939
property_value: confidence "1.258011707790705" xsd:double

Expand Down Expand Up @@ -421155,7 +421155,7 @@ xref: UMLS:C5193054 {source="OMIM:618362"}
is_a: MONDO:0003847 {source="OMIM:618362"} ! Mendelian disease
is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11105 {source="OMIM:618362|https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! SMARCC2
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11105 {source="OMIM:618362", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC2
relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466"} ! autosomal dominant non-syndromic intellectual disability
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

Expand Down Expand Up @@ -421761,7 +421761,7 @@ xref: Orphanet:528084 {source="OMIM:618470"}
xref: UMLS:C5193115 {source="OMIM:618470"}
is_a: MONDO:0003847 {source="OMIM:618470"} ! Mendelian disease
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/160 {source="OMIM:618470|https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! ACTL6B
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/160 {source="OMIM:618470", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6B
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
Expand Down Expand Up @@ -424334,7 +424334,7 @@ xref: UMLS:C4540499 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617808
xref: UMLS:CN696018 {source="MONDO:equivalentTo"}
is_a: MONDO:0015802 {source="DOID:0080297", source="OMIM:617808"} ! autosomal dominant non-syndromic intellectual disability
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18037 {source="OMIM:617808|https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! ARID2
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18037 {source="OMIM:617808", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ARID2
relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

Expand Down Expand Up @@ -437546,7 +437546,7 @@ synonym: "CSS7" RELATED ABBREVIATION [OMIM:618027]
xref: OMIM:618027 {source="MONDO:equivalentTo"}
xref: UMLS:CN248780 {source="MONDO:equivalentTo"}
is_a: MONDO:0015452 {source="OMIM:618027"} ! Coffin-Siris syndrome
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9964 {source="OMIM:618027|https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! DPF2
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9964 {source="OMIM:618027", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! DPF2
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
Expand Down Expand Up @@ -438913,7 +438913,7 @@ xref: OMIM:618092 {source="MONDO:equivalentTo"}
is_a: MONDO:0000508 ! syndromic intellectual disability
is_a: MONDO:0003847 ! Mendelian disease
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13222 {source="OMIM:618092|https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! BCL11B
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13222 {source="OMIM:618092", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BCL11B
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
Expand Down Expand Up @@ -445411,23 +445411,23 @@ id: MONDO:0700121
name: ACTL6A-related BAFopathy
def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24124 {source="https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! ACTL6A
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24124 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! ACTL6A
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
id: MONDO:0700122
name: PBRM1-related BAFopathy
def: "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30064 {source="https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! PBRM1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30064 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! PBRM1
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
id: MONDO:0700123
name: SMARCC1-related BAFopathy
def: "Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808]
is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11104 {source="https://orcid.org/0000-0001-7451-4467|PMID:30580808"} ! SMARCC1
relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11104 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC1
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/3939

[Term]
Expand Down

0 comments on commit b7ac9d5

Please sign in to comment.