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Summary Literature (0)
DOID:0060575 - 3MC syndrome 1

Disease Ontology 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.

Synonyms:

Xenbase Genes : masp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009770 - 3MC syndrome 1

MIM:
MIM:257920 - 3MC SYNDROME 1; 3MC1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): 3MC syndrome (is_a)