OBO ID: DOID:1925 |
Term Name: | Coffin-Siris syndrome | Search Ontology: | |
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Definition: | An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (3) | ||
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Ontology: | Human Disease ( DOID:1925 ) |
OTHER Coffin-Siris syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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sox11aihb607/ihb607 (AB) | standard conditions | Jia et al., 2020 |
PHENOTYPE
No data available
CITATIONS (2)
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