New term AFG3L2-related optic atrophy

Closes #7826

- Definition
- Term tracker
- 3 Parents
- 2 Children
- 1 child class
- Several PMIDs and a working group source/dbxref
-

src/ontology/mondo-edit.obo

@@ -315696,6 +315696,7 @@ xref: UMLS:C3280977 {source="MEDGEN:482607", source="MONDO:equivalentTo", source
 is_a: MONDO:0017845 {source="DOID:0050944", source="MONDO:Redundant", source="OMIM:614487", source="Orphanet:313772/inferred"} ! spastic ataxia
 is_a: MONDO:0017847 {source="MONDO:Redundant", source="Orphanet:313772"} ! autosomal recessive spastic ataxia
 is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome
+is_a: MONDO:1040023 {source="PMID:32219868"} ! AFG3L2-related optic atrophy and/or ataxia
 intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia
 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 ! AFG3L2
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 {source="MONDO:mim2gene_medgen"} ! AFG3L2
@@ -512428,6 +512429,7 @@ xref: OMIM:618977 {source="MONDO:equivalentTo"}
 xref: UMLS:C5436534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720703"}
 is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
 is_a: MONDO:0043878 {source="OMIM:618977"} ! hereditary optic atrophy
+is_a: MONDO:1040023 {source="PMID:32219868"} ! AFG3L2-related optic atrophy and/or ataxia
 
 [Term]
 id: MONDO:0033550
@@ -582735,6 +582737,19 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T20:59:58Z" 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/7831" xsd:anyURI
 
+[Term]
+id: MONDO:1040023
+name: AFG3L2-related optic atrophy and/or ataxia
+def: "Any optic atrophy and/or ataxia in which the cause of the disease is a heterozygous variant or biallelic variants in the AFG3L2 gene." [https://clinicalgenome.org/affiliation/40077/#\:~\:text=The%20Glaucoma%20and%20Neuro%2DOphthalmology\,includes%20inherited%20optic%20atrophies%2Fneuropathies, PMID:22022284, PMID:26539208, PMID:32219868]
+is_a: MONDO:0017847 {source="PMID:16251216", source="PMID:32219868"} ! autosomal recessive spastic ataxia
+is_a: MONDO:0018158 {source="PMID:10395799", source="PMID:17101804", source="PMID:18337413", source="PMID:7926051"} ! mitochondrial DNA depletion syndrome
+is_a: MONDO:0043878 {source="PMID:26539208"} ! hereditary optic atrophy
+intersection_of: MONDO:0043878 ! hereditary optic atrophy
+intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/315 ! AFG3L2
+property_value: http://purl.org/dc/elements/1.1/date "2024-07-29T11:45:12Z" xsd:dateTime
+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/7826" xsd:string
+
 [Term]
 id: MONDO:1040029
 name: Sharpin-related autoinflammatory syndrome