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3MC syndrome 1
Summary
- Definition
- A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
- Super Class
- 3MC syndrome
External Links
- Disease Ontology
- DOID:0060575
- 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:0000678 | Dental crowding |
| HP:0000960 | Sacral dimple |
| HP:0001256 | Intellectual disability, mild |
| HP:0001510 | Growth delay |
| HP:0001539 | Omphalocele |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001769 | Broad foot |
| HP:0001773 | Short foot |
