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Remove obsoletion of EN1-related dorsoventral syndrome (#8017)
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* Remove obsoletion of EN1-related dorsoventral syndrome

Closes #7574

- Adds obsoleted term
- Obsoleted input has pointer to new term
- 1 Parent added
- 2 Children added

* Removed xref that the term has

Removed Orphanet and GARD labels that the new term has, as they both can't have the same labels.

* Additional features added

- Added term tracker
- Added synonym type property for abbreviation (2 terms)
- Added definition with Orphanet label

* Obsolete update

Removed ordo disorder subset from obsolete term

* Abbreviation update

Switched annotation tag for abbreviation from synonym type property to has synonym type

* updated the GH link

the link to GH was added to the wrong term

---------

Co-authored-by: Sabrina Toro <[email protected]>
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yshwetar and sabrinatoro authored Aug 2, 2024
1 parent a81c061 commit 105dcf9
Showing 1 changed file with 15 additions and 5 deletions.
20 changes: 15 additions & 5 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -504655,6 +504655,7 @@ xref: MEDGEN:1787128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619217 {source="MONDO:equivalentTo"}
xref: UMLS:C5543128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787128"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:1040032 {source="https://orcid.org/0000-0001-9310-0163"} ! EN1-related dorsoventral syndrome

[Term]
id: MONDO:0030979
Expand All @@ -504668,6 +504669,7 @@ xref: MEDGEN:1782954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:619218 {source="MONDO:equivalentTo"}
xref: UMLS:C5543142 {source="MEDGEN:1782954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:1040032 {source="https://orcid.org/0000-0001-9310-0163"} ! EN1-related dorsoventral syndrome

[Term]
id: MONDO:0030981
Expand Down Expand Up @@ -518545,15 +518547,12 @@ is_a: MONDO:0003847 {source="OMIM:619318"} ! hereditary disease
[Term]
id: MONDO:0036192
name: obsolete EN1-related dorsoventral syndrome
subset: ordo_disorder {source="Orphanet:611223"}
synonym: "ENDOVE syndrome" EXACT [Orphanet:611223]
synonym: "ENDOVES" EXACT [Orphanet:611223]
xref: GARD:18027 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:611223 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" 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/7574" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:1040032

[Term]
id: MONDO:0036193
Expand Down Expand Up @@ -583347,6 +583346,17 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd:
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7652" xsd:anyURI

[Term]
id: MONDO:1040032
name: EN1-related dorsoventral syndrome
def: "A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures." [Orphanet:611223]
synonym: "ENDOVE syndrome" EXACT [Orphanet:611223]
synonym: "ENDOVES" EXACT [Orphanet:611223]
xref: GARD:18027 {source="MONDO:equivalentTo"}
xref: Orphanet:611223 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0587-4693"} ! hereditary disease
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7574" xsd:anyURI

[Term]
id: MONDO:1040033
name: congenital muscular dystrophy without intellectual disability
Expand Down

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