OBO ID: DOID:0060764
Term Name: autosomal recessive Robinow syndrome Search Ontology:
Synonyms:
  • costovertebral segmentation defect-mesomelia syndrome
  • COVESDEM syndrome
  • RRS
Definition: A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (2)
References:
Ontology: Human Disease   (DOID:0060764)
OTHER autosomal recessive Robinow syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ROR2 Robinow syndrome, autosomal recessive 268310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None