Search Ontology:
Human Disease
autosomal dominant Robinow syndrome 3
- Term ID
- DOID:0060767
- Synonyms
-
- DRS3
- Definition
- A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/26924530
- References
-
- MIM:616894
- ORDO:3107
- ORDO:97360
- Ontology
- Human Disease ( DOID:0060767 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| DVL3 | Robinow syndrome, autosomal dominant 3 | autosomal dominant Robinow syndrome 3 | 616894 |
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Zebrafish Models