| Metadata | |
|---|---|
| ID | DOID:0060575 |
| Name | 3MC syndrome 1 |
| 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. https://ghr.nlm.nih.gov/condition/3mc-syndrome, https://www.omim.org/entry/257920 |
| Xrefs | |
| Parent Relationships |
is_a 3MC syndrome |