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relabel Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (#7556)
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close #7527
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nicolevasilevsky committed Apr 6, 2024
1 parent 5495c52 commit f1695a1
Showing 1 changed file with 2 additions and 1 deletion.
3 changes: 2 additions & 1 deletion src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -301531,7 +301531,7 @@ is_obsolete: true

[Term]
id: MONDO:0013800
name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
def: "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." [Orphanet:300179]
subset: gard_rare {source="GARD:17361"}
subset: nord_rare {source="MONDO:NORD"}
Expand Down Expand Up @@ -301559,6 +301559,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
property_value: confidence "3.0625" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4220" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7527" xsd:anyURI

[Term]
id: MONDO:0013801
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