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(Q27674820)
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English
atrial heart septal defect 4
atrial heart septal defect type 4 that has material basis in mutation in the TBX20 gene
ASD4
atrial septal defect 4
atrial heart septal defect type 4
ATRIAL SEPTAL DEFECT 4; ASD4
Atrial Septal Defect type 4
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
atrial heart septal defect
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110109
health specialty
medical genetics
0 references
genetic association
TBX20
2 references
stated in
UniProt
UniProt protein ID
Q9UMR3
retrieved
13 August 2019
stated in
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110109
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110109
http://identifiers.org/doid/DOID:0110109
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C566963
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012654
Disease Ontology ID
DOID:0110109
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110109
ICD-10-CM
Q21.1
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110109
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012654
Mondo ID
MONDO_0012654
0 references
OMIM ID
611363
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110109
611363
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012654
UMLS CUI
C1969657
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012654
UniProt disease ID
DI-00152
0 references
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Wiktionary
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