Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614372 http://purl.bioontology.org/ontology/OMIM/614372
Preferred Name	MANNOSE-BINDING LECTIN DEFICIENCY
Synonyms	MBL2 DEFICIENCY LCAPD1 MBL DEFICIENCY LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1 MBP DEFICIENCY MBLD MANNOSE-BINDING PROTEIN DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MBL2 DEFICIENCY LCAPD1 MBL DEFICIENCY LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1 MBP DEFICIENCY MBLD MANNOSE-BINDING PROTEIN DEFICIENCY See more See less
prefLabel	MANNOSE-BINDING LECTIN DEFICIENCY
Gene Symbol	MBL MBL2 MBL2D MBPD MBP1
Scope Statement	Caused by variation in the soluble mannose-binding lectin 2 gene (MBL2, 154545.0001) [MOLECULAR BASIS] Up to 10% of healthy individuals may have MBL deficiency and be asymptomatic [MISCELLANEOUS] Individuals with homozygous or compound heterozygous polymorphisms may have lower serum MBL levels and more severe clinical manifestations [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054864 http://purl.bioontology.org/ontology/OMIM/MTHU054993 http://purl.bioontology.org/ontology/OMIM/MTHU069281
tui	T047
Gene Locus	10q11.2-q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614372
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3280586
OMIM Entry Type	3
OMIM MimType Value	pound

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