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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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holoprosencephaly
Summary
- Synonym
-
- Holoprosencephaly sequence
- Definition
- A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
- Super Class
- congenital nervous system abnormality syndrome
External Links
- Disease Ontology
- DOID:4621
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13635 | Protein patched homolog 1 | |
| Q15465 | Sonic hedgehog protein | |
| Q15583 | Homeobox protein TGIF1 | |
| Q4KWH8 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3UUQ7 | GPI inositol-deacylase | |
| Q9R1S3 | GPI ethanolamine phosphate transferase 1 |
