Jump to:
loading...| Preferred Name |
Conotruncal cardiac defects |
| Synonyms |
Truncus arteriosus communis |
| ID |
http://purl.bioontology.org/ontology/MESH/C535464 |
| altLabel |
Truncus arteriosus communis Conotruncal heart malformations |
| cui |
C1857586 |
| HM |
D006330 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
86 |
| MMR |
20150818 |
| 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 T736144 T736142 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/611770 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/217095 | Online Mendelian Inheritance in Man | CUI |