From ede6a34907480f18353539fd3df9be31d9f01cdf Mon Sep 17 00:00:00 2001 From: "github-actions[bot]" <41898282+github-actions[bot]@users.noreply.github.com> Date: Thu, 7 Mar 2024 16:15:06 -0800 Subject: [PATCH] [create-pull-request] automated change (#7386) Co-authored-by: kgcl-change-request --- src/ontology/mondo-edit.obo | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 6d0e0f6c6d..659253f036 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -143744,7 +143744,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007525 -name: Ehlers-Danlos syndrome, arthrochalasis type +name: Ehlers-Danlos syndrome, arthrochalasia type def: "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." [GARD:0002084] subset: gard_rare {source="GARD:2084"} subset: nord_rare {source="MONDO:NORD"}