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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:0002825 | Caudal appendage |
| HP:0002827 | Hip dislocation |
| HP:0002974 | Radioulnar synostosis |
| HP:0003298 | Spina bifida occulta |
| HP:0003307 | Hyperlordosis |
| HP:0005105 | Abnormal nasal morphology |
| HP:0006394 | Limited pronation/supination of forearm |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0008897 | Postnatal growth retardation |
| HP:0000007 | Autosomal recessive inheritance |
