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NTR/TFAP2B #8637

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Jan 30, 2025
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NTR/TFAP2B #8637

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NTR/TFAP2B
katiermullen Jan 30, 2025
8b4f723
added the logical definition
sabrinatoro Jan 30, 2025
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14 changes: 14 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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"}
Expand Down Expand Up @@ -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]
Expand Down Expand Up @@ -564704,6 +564706,18 @@ 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
intersection_of: MONDO:0005453 ! congenital heart disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11743 ! TFAP2B
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
Expand Down