Add Clin Gen syn to MONDO:0013523 (#8377)

* Add Clin Gen syn to MONDO:0013523 Closes #8191 * Update with term tracker Update with GH term tracker and remove label name from def. * updated the definition * updated the clingen link --------- Co-authored-by: Sabrina Toro <[email protected]>
monarch-initiative · Nov 14, 2024 · 911ab30 · 911ab30
1 parent 73e3f38
commit 911ab30
Showing 1 changed file with 3 additions and 0 deletions.
diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
@@ -309897,13 +309897,15 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
 [Term]
 id: MONDO:0013523
 name: Nestor-Guillermo progeria syndrome
+def: "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life." [OMIM:614008]
 subset: gard_rare {source="GARD:11008", source="MONDO:GARD"}
 subset: nord_rare {source="MONDO:NORD"}
 subset: ordo_disorder {source="Orphanet:280576"}
 subset: ordo_malformation_syndrome {source="Orphanet:280576"}
 subset: orphanet_rare {source="Orphanet:280576"}
 subset: otar {source="MONDO:OTAR"}
 subset: rare
+synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID:008387]
 synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008]
 synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576]
 synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008]
@@ -309922,6 +309924,7 @@ is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576"} ! prima
 is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:614008"} ! progeria
 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614008", source="Orphanet:280576"} ! Autosomal recessive inheritance
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17397 {source="MONDO:mim2gene_medgen"} ! BANF1
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8191" xsd:anyURI
 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome" xsd:anyURI {source="GARD:0011008"}
 
 [Term]