OBO ID: DOID:5325 |
Term Name: | Roberts syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (2) | ||
References: |
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Ontology: | Human Disease ( DOID:5325 ) |
OTHER Roberts syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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esco2hi2865Tg/hi2865Tg | standard conditions | Xu et al., 2013 |
esco2hi2865Tg/hi2865Tg | standard conditions | Percival et al., 2015 |
WT + MO1-esco2 | standard conditions | (2) |
PHENOTYPE
No data available
CITATIONS (6)
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