NTR/TFAP2B

closes #8256

src/ontology/mondo-edit.obo

@@ -169966,6 +169966,7 @@ xref: UMLS:C1868570 {source="MEDGEN:358356", source="MONDO:equivalentTo", source
 is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
 is_a: MONDO:0011827 {source="DOID:0060563", source="MESH:C566815"} ! patent ductus arteriosus
 is_a: MONDO:0015160 {source="Orphanet:46627"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
+is_a: MONDO:1010098 {source="https://clinicalgenome.org/affiliation/40060/"} ! TFAP2B-related congenital heart disease spectrum disorder
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen", source="OMIM:169100"} ! TFAP2B
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI
 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1237/char-syndrome" xsd:anyURI {source="GARD:0001237"}
@@ -344510,6 +344511,7 @@ xref: MEDGEN:924886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
 xref: OMIM:617035 {source="MONDO:equivalentTo"}
 xref: UMLS:C4284595 {source="MEDGEN:924886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
 is_a: MONDO:0011827 {source="DC-OMIM:617035", source="OMIM:617035"} ! patent ductus arteriosus
+is_a: MONDO:1010098 {source="https://clinicalgenome.org/affiliation/40060/"} ! TFAP2B-related congenital heart disease spectrum disorder
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="MONDO:mim2gene_medgen", source="OMIM:617035"} ! TFAP2B
 
 [Term]
@@ -564704,6 +564706,16 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20603 {source="PMID:34034154"} ! DHDDS
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8152" xsd:anyURI
 
+[Term]
+id: MONDO:1010098
+name: TFAP2B-related congenital heart disease spectrum disorder
+def: "Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency." [https://www.ncbi.nlm.nih.gov/books/NBK1106/, Orphanet:46627, Orphanet:466729, PMID:31012281]
+comment: Two overlapping clinical presentations have been associated with TFAP2B mutations; Char syndrome (MIM:169100) and Patent ductus arteriosus 2 (MIM:617035). These phenotypes have been grouped together into one disease entity: TFAP2B - related PDA and Char syndrome spectrum disorder https://clinicalgenome.org/affiliation/40060/.
+synonym: "TFAP2B-related PDA and Char syndrome spectrum disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40060/]
+is_a: MONDO:0005453 {source="https://clinicalgenome.org/affiliation/40060/"} ! congenital heart disease
+relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 {source="OMIM:169100", source="OMIM:617035"} ! TFAP2B
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8256" xsd:anyURI
+
 [Term]
 id: MONDO:1010099
 name: pyruvate kinase deficiency of erythrocyte, non-human animal