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DO Term : autosomal recessive Robinow syndrome [DOID:0060764] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:268310,
  • 268310,
  • COVESDEM syndrome,
  • RRS,
  • ORDO:1507,
  • costovertebral segmentation defect-mesomelia syndrome
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Ontology

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Ontology Term --> Direct parents