Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3MC syndrome 2
Summary
- Definition
- A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
- Super Class
- 3MC syndrome
External Links
- Disease Ontology
- DOID:0060576
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48740 | Mannan-binding lectin serine protease 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000204 | Cleft upper lip |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001382 | Joint hypermobility |
| HP:0002996 | Limited elbow movement |
| HP:0000431 | Wide nasal bridge |
| HP:0000175 | Cleft palate |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0010759 | Prominence of the premaxilla |
| HP:0000473 | Torticollis |
| HP:0000218 | High palate |
