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add new term ALG14-congenital disorder of glycosylation #7549

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merged 7 commits into from
Apr 8, 2024
Merged

add new term ALG14-congenital disorder of glycosylation #7549

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4370596
add new term ALG14-congenital disorder of glycosylation
nicolevasilevsky Apr 5, 2024
ba74526
reclassify term
nicolevasilevsky Apr 5, 2024
9da4a30
Merge branch 'master' into issue-7389
sabrinatoro Apr 6, 2024
daf9792
update ID from parent
sabrinatoro Apr 6, 2024
2423017
Merge branch 'master' into issue-7389
sabrinatoro Apr 6, 2024
5fbb614
Merge branch 'master' into issue-7389
nicolevasilevsky Apr 8, 2024
2d4d11e
Merge branch 'master' into issue-7389
nicolevasilevsky Apr 8, 2024
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25 changes: 22 additions & 3 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -319952,6 +319952,7 @@ xref: Orphanet:353327 {source="OMIM:616227"}
xref: Orphanet:590 {source="OMIM:616227"}
xref: UMLS:C4015596 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"}
is_a: MONDO:0018940 {source="DOID:0110658", source="MONDO:Redundant", source="OMIM:616227"} ! congenital myasthenic syndrome
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
intersection_of: MONDO:0018940 ! congenital myasthenic syndrome
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
Expand All @@ -319960,6 +319961,7 @@ property_value: confidence "3.24884739376658" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0014543
Expand Down Expand Up @@ -460932,7 +460934,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1472/congeni
[Term]
id: MONDO:0022819
name: obsolete congenital arteriovenous shunt
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7205" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0020296
Expand Down Expand Up @@ -485995,11 +485997,14 @@ id: MONDO:0033572
name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
subset: gard_rare {source="GARD:18529"}
subset: rare
synonym: "IDDEBF" RELATED ABBREVIATION [OMIM:619031]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES" RELATED [OMIM:619031]
synonym: "IDDEBF" EXACT ABBREVIATION [OMIM:619031]
synonym: "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" EXACT [OMIM:619031]
xref: GARD:18529 {source="OMIM:619031"}
xref: OMIM:619031 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619031"} ! ALG14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0033613
Expand Down Expand Up @@ -486068,6 +486073,9 @@ name: myopathy, epilepsy, and progressive cerebral atrophy
synonym: "MEPCA" EXACT ABBREVIATION [OMIM:619036]
xref: OMIM:619036 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619036"} ! ALG14
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

[Term]
id: MONDO:0033620
Expand Down Expand Up @@ -513942,6 +513950,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI

[Term]
id: MONDO:0100559
name: ALG14-congenital disorder of glycosylation
def: "Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins." [https://clinicalgenome.org/affiliation/40135/]
synonym: "ALG14-CDG" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40135/]
is_a: MONDO:0015286 {source="https://clinicalgenome.org/affiliation/40135/"} ! congenital disorder of glycosylation
intersection_of: MONDO:0015286 ! congenital disorder of glycosylation
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI

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