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add term: name: BMP4-related ocular growth disorder #8859

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8 changes: 8 additions & 0 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -544908,6 +544908,14 @@ intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 ! COL1A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8760" xsd:anyURI

[Term]
id: MONDO:0100613
name: BMP4-related ocular growth disorder
def: "Any ocular growth disorder in which the cause of the disease is a mutation in the BMP4 gene." [https://clinicalgenome.org/affiliation/40077/]
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Something is missing.
if "ocular growth disorder" is in the name and/or the definition, we need to have "ocular growth disorder" defined.
We don't have a term for this, and it is not explained in the current definition.

This might require input from the requester.

is_a: MONDO:0005328 {source="https://clinicalgenome.org/affiliation/40077/"} ! eye disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="https://clinicalgenome.org/affiliation/40077/"} ! BMP4
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8786" xsd:anyURI

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
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