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loading...| Preferred Name |
Conotruncal cardiac defects |
|
| Synonyms |
Conotruncal heart malformations |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535464 |
|
| altLabel |
Conotruncal heart malformations |
|
| cui |
C1857586 |
|
| HM |
D006330 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
118 |
|
| MMR |
20210809 |
|
| notation |
C535464 |
|
| prefLabel |
Conotruncal cardiac defects |
|
| SC |
3 |
|
| Scope Statement |
Congenital heart abnormalities that are characterized by AORTIC COARCTATION; DOUBLE-OUTLET RIGHT VENTRICLE, and atrioventricular canal defects. SYNDACTYLY and POLYDACTYLY may also occur. Mutations in several genes have been identified, including CFC1, GDF1, NKX2-5, NKX2-6, TBX-1, and GATA6. OMIM: 217095 |
|
| TERMUI |
T736146 T736142 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/217095 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/OMIM/611770 | OMIM | CUI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535464 | RH-MESH | LOOM |