loading...| Preferred Name |
VACTERL association |
| Synonyms |
VACTERL Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C536495 |
| altLabel |
VACTERL Syndrome Vertebral Anal Tracheoesophageal Esophageal Radial anomalies VACTEL Association |
| cui |
C1735591 |
| Has mapping qualifier | |
| HM |
D014132/Q000002 D006330 D004947/Q000002 D013131/Q000002 D007668/Q000002 D001003/Q000002 D017880 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D017880 http://purl.bioontology.org/ontology/MESH/D013131 http://purl.bioontology.org/ontology/MESH/D004947 http://purl.bioontology.org/ontology/MESH/D001003 http://purl.bioontology.org/ontology/MESH/D007668 |
| MDA |
20100825 |
| MeSH Frequency |
189 |
| MMR |
20150818 |
| notation |
C536495 |
| prefLabel |
VACTERL association |
| SC |
3 |
| Scope Statement |
An association of congenital abnormalities: vertebral defects (V), ANAL ATRESIA (A), cardiac malformations (C) TRACHEOESOPHAGEAL FISTULA with ESOPHAGEAL ATRESIA (TE), radial or renal dysplasia (R), and limb anomalies (L). A heterozygous mutation in the HOXD13 gene has been identified. OMIM: 192350 |
| TERMUI |
T739518 T739520 T739521 T739522 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |