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[create-pull-request] automated change (#7386)
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Co-authored-by: kgcl-change-request <[email protected]>
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2 changes: 1 addition & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -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"}
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