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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:0000289 | Broad philtrum |
| HP:0000085 | Horseshoe kidney |
| HP:0002678 | Skull asymmetry |
| HP:0000426 | Prominent nasal bridge |
| HP:0005243 | Partial abdominal muscle agenesis |
| HP:0000028 | Cryptorchidism |
| HP:0000337 | Broad forehead |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0009004 | Hypoplasia of the musculature |
| HP:0000437 | Depressed nasal tip |
