OBO ID: DOID:0060767
Term Name: autosomal dominant Robinow syndrome 3 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060767 )
OTHER autosomal dominant Robinow syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DVL3 Robinow syndrome, autosomal dominant 3 616894
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None