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ZIRC
OBO ID: DOID:0060765
Term Name: autosomal dominant Robinow syndrome 2 Search Ontology:
Synonyms:
  • DRS2
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (2)
References:
Ontology: Human Disease   (DOID:0060765)
OTHER autosomal dominant Robinow syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DVL1 Robinow syndrome, autosomal dominant 2 616331
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None