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General Information
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| Term |
autosomal recessive Robinow syndrome |
ID (Ontology) |
DOID:0060764 (Human Disease) |
| 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. |
| Also Known As |
"costovertebral segmentation defect-mesomelia syndrome" ; "COVESDEM syndrome" ; "RRS" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive Robinow syndrome | 1 | for disease ribbon | autosomal recessive Robinow syndrome | 1 | model of | autosomal recessive Robinow syndrome | 1 |
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Relationships