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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:0002678 | Skull asymmetry |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0004440 | Coronal craniosynostosis |
| HP:0004443 | Lambdoidal craniosynostosis |
| HP:0006216 | Single interphalangeal crease of fifth finger |
| HP:0009237 | Short 5th finger |
| HP:0009891 | Underdeveloped supraorbital ridges |
