| Metadata | |
|---|---|
| ID | DOID:758 |
| Name | visceral heterotaxy 5 |
| Definition | A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22. https://en.wikipedia.org/wiki/Situs_inversus, https://pubmed.ncbi.nlm.nih.gov/3812559/, https://rarediseases.info.nih.gov/diseases/4883/situs-inversus |
| Xrefs |
SNOMEDCT_US_2023_03_01:157033002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Complete transposition [EXACT] Laterality sequence [EXACT] situs inversus [EXACT] situs inversus viscerum [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a visceral heterotaxy |