autosomal recessive Robinow syndrome

Summary

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: costovertebral segmentation defect-mesomelia syndrome, COVESDEM syndrome, RRS

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ror2, nxn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009999 - autosomal recessive Robinow syndrome

MONDO:0009999 - autosomal recessive Robinow syndrome

MIM:

MIM:268310 - ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1; RRS1

MIM:268310 - ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1; RRS1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Robinow syndrome (is_a)