OBO ID: DOID:0060767 |
Term Name: | autosomal dominant Robinow syndrome 3 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060767 ) |
OTHER autosomal dominant Robinow syndrome 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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