Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/615468 http://purl.bioontology.org/ontology/OMIM/615468
Preferred Name	IMMUNODEFICIENCY 12
Synonyms	IMD12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD12
prefLabel	IMMUNODEFICIENCY 12
Gene Symbol	MALT1 IMD12 MLT
notation	615468
Scope Statement	One patient from a consanguineous Lebanese family and one patient from a consanguineous Kurdish family have been reported (last curated April 2014) [MISCELLANEOUS] Caused by mutation in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1, 604860.0001) [MOLECULAR BASIS] Death may occur in late childhood [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU046752 http://purl.bioontology.org/ontology/OMIM/MTHU001486 http://purl.bioontology.org/ontology/OMIM/MTHU007455 http://purl.bioontology.org/ontology/OMIM/MTHU001789 http://purl.bioontology.org/ontology/OMIM/MTHU044304 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU043282 http://purl.bioontology.org/ontology/OMIM/MTHU046751 http://purl.bioontology.org/ontology/OMIM/MTHU044305 http://purl.bioontology.org/ontology/OMIM/MTHU001487 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU044306 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	18q21
tui	T047
cui	C3809583

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