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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:0000593 | Abnormal anterior chamber morphology |
| HP:0001249 | Intellectual disability |
| HP:0001363 | Craniosynostosis |
| HP:0001537 | Umbilical hernia |
| HP:0001540 | Diastasis recti |
| HP:0002265 | Large fleshy ears |
| HP:0002553 | Highly arched eyebrow |
| HP:0002558 | Supernumerary nipple |
| HP:0002650 | Scoliosis |
| HP:0002714 | Downturned corners of mouth |
