OBO ID: DOID:0111581 |
Term Name: | C syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/17847009 | ||
References: |
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Ontology: | Human Disease ( DOID:0111581 ) |
OTHER C syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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CD96 | C syndrome |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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