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Disease Ontology Browser
autosomal recessive Robinow syndrome (DOID:0060764)
Alliance: disease page
Synonyms: costovertebral segmentation defect-mesomelia syndrome; COVESDEM syndrome; RRS
Alt IDs: OMIM:268310, ORDO:1507
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory