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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
nonsyndromic aplasia cutis congenita
Summary
- Definition
- A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11.
- Super Class
- skin disease
External Links
- Disease Ontology
- DOID:0080661
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14692 | Ribosome biogenesis protein BMS1 homolog |
