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create new term COL1A2-related Ehlers-Danlos syndrome #8794

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create new term COL1A2-related Ehlers-Danlos syndrome #8794

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3bec031
create new term COL1A2-related Ehlers-Danlos syndrome
nicolevasilevsky Feb 27, 2025
9c4d619
add synonym to 'Ehlers-Danlos syndrome, cardiac valvular type'
nicolevasilevsky Feb 27, 2025
48af180
revise syns
nicolevasilevsky Feb 27, 2025
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41 changes: 25 additions & 16 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -152744,7 +152744,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
[Term]
id: MONDO:0007525
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]
def: "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, https://orcid.org/0000-0001-5208-3432]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:2084", source="MONDO:GARD"}
subset: ordo_disorder {source="Orphanet:1899"}
Expand Down Expand Up @@ -194877,25 +194877,24 @@ is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagula
[Term]
id: MONDO:0009159
name: Ehlers-Danlos syndrome, cardiac valvular type
def: "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [Orphanet:230851]
def: "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." [https://orcid.org/0000-0001-5208-3432, Orphanet:230851]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:12613", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:230851"}
subset: orphanet_rare {source="Orphanet:230851"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200]
synonym: "Cardiac-valvular EDS" RELATED [GARD:0012613]
synonym: "Cardiac-valvular Ehlers-Danlos syndrome" RELATED [GARD:0012613]
synonym: "cvEDS" RELATED [GARD:0012613]
synonym: "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" EXACT [MESH:C536200]
synonym: "cardiac valvular form of Ehlers-Danlos syndrome" EXACT [MESH:C536200]
synonym: "cardiac-valvular EDS" EXACT [GARD:0012613]
synonym: "cardiac-valvular Ehlers-Danlos syndrome" EXACT [GARD:0012613]
synonym: "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40065/]
synonym: "cvEDS" EXACT [GARD:0012613]
synonym: "EDS, cardiac valvular type" EXACT []
synonym: "EDSCV" RELATED ABBREVIATION []
synonym: "EDSCV" EXACT ABBREVIATION []
synonym: "Ehlers-Danlos syndrome, arthrochalasis type" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED []
synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200]
synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED []
synonym: "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form" EXACT [MESH:C536200]
xref: DOID:0080730 {source="MONDO:equivalentTo"}
xref: GARD:12613 {source="MONDO:GARD"}
xref: ICD10CM:Q79.6 {source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"}
Expand All @@ -194910,6 +194909,7 @@ is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder
is_a: MONDO:0020066 {source="DC-OMIM:225320", source="DOID:0080730", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome
relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009159 {source="MONDO:CLINGEN"}
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 {source="MONDO:mim2gene_medgen", source="OMIM:225320"} ! COL1A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8761" xsd:anyURI

[Term]
id: MONDO:0009160
Expand Down Expand Up @@ -519869,14 +519869,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/

[Term]
id: MONDO:0040501
name: ehlers-danlos syndrome, arthrochalasia type, 2
name: Ehlers-Danlos syndrome, arthrochalasia type, 2
subset: gard_rare {source="GARD:16256", source="MONDO:GARD"}
subset: rare
synonym: "EDS 7B" RELATED []
synonym: "EDS VIIB" RELATED []
synonym: "EDS 7B" EXACT ABBREVIATION [OMIM:617821]
synonym: "EDS VIIB" EXACT ABBREVIATION [OMIM:617821]
synonym: "EDSARTH2" RELATED ABBREVIATION []
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED []
synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED []
synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" EXACT [OMIM:617821]
synonym: "Ehlers-Danlos syndrome, type VIIb, autosomal dominant" EXACT [OMIM:617821]
xref: DOID:0080728 {source="MONDO:equivalentTo"}
xref: GARD:16256 {source="MONDO:GARD"}
xref: OMIM:617821 {source="MONDO:equivalentTo"}
Expand Down Expand Up @@ -544745,6 +544745,15 @@ xref: NCIT:C34629
is_a: MONDO:0021201 {source="NCIT:C34629"} ! skin infection
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8306" xsd:anyURI

[Term]
id: MONDO:0100596
name: COL1A2-related Ehlers-Danlos syndrome
def: "Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene." [https://clinicalgenome.org/affiliation/40065/]
is_a: MONDO:0020066 {source="https://clinicalgenome.org/affiliation/40065/"} ! Ehlers-Danlos syndrome
intersection_of: MONDO:0020066 ! Ehlers-Danlos syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 ! COL1A2
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8760" xsd:anyURI

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
Expand Down