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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0005105 | Abnormal nasal morphology |
| HP:0000581 | Blepharophimosis |
| HP:0002558 | Supernumerary nipple |
| HP:0000202 | Orofacial cleft |
| HP:0001540 | Diastasis recti |
| HP:0002974 | Radioulnar synostosis |
| HP:0000506 | Telecanthus |
| HP:0006394 | Limited pronation/supination of forearm |
| HP:0000593 | Abnormal anterior chamber morphology |
