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DOID:0060764 - autosomal recessive Robinow syndrome
Disease Ontology 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.
Synonyms: COVESDEM syndrome, RRS, costovertebral segmentation defect-mesomelia syndrome,
Echinobase Genes :
MIM:268310 - robinow syndrome, autosomal recessive; rrs |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Robinow syndrome (is_a)