Term Name: | 3MC syndrome 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060575] ( DOID:0060575 ) |