add new term ALG14-congenital disorder of glycosylation (#7549)

* add new term ALG14-congenital disorder of glycosylation

close #7389

* reclassify term

* update ID from parent

---------

Co-authored-by: Sabrina Toro <sabrina@tislab.org>

src/ontology/mondo-edit.obo

@@ -319956,6 +319956,7 @@ 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
@@ -319964,6 +319965,7 @@ 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
@@ -486005,11 +486007,14 @@ 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
@@ -486078,6 +486083,9 @@ 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
@@ -513961,6 +513969,17 @@ 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/7497" 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:0100557
 name: RBFOX2-related congenital heart disorder