Term Name: 3MC syndrome 1
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 )

Relationships
is a type of: 3MC syndrome