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Coffin-Siris syndrome 1
Summary
- Synonym
-
- CSS1
- MRD12
- autosomal dominant mental retardation 12
- fifth digit syndrome
- Definition
- A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0070042
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6652 | SORD | sorbitol dehydrogenase | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 55907 | CMAS | cytidine monophosphate N-acetylneuraminic acid synthetase |
Related Glycoprotein
