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Preferred Name

IMMUNODEFICIENCY 43
Synonyms

B2M DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/241600
altLabel

B2M DEFICIENCY

HYPOPROTEINEMIA, HYPERCATABOLIC

IMD43

BETA-2-MICROGLOBULIN DEFICIENCY
cui

C1855796
Gene Locus

15q21-q22
Gene Symbol

B2M

IMD43
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011676

http://purl.bioontology.org/ontology/OMIM/MTHU026378

http://purl.bioontology.org/ontology/OMIM/MTHU048978

http://purl.bioontology.org/ontology/OMIM/MTHU048976

http://purl.bioontology.org/ontology/OMIM/MTHU012160

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU012164

http://purl.bioontology.org/ontology/OMIM/MTHU012162

http://purl.bioontology.org/ontology/OMIM/MTHU067636

http://purl.bioontology.org/ontology/OMIM/MTHU067634

http://purl.bioontology.org/ontology/OMIM/MTHU067638

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU043669

http://purl.bioontology.org/ontology/OMIM/MTHU001685

http://purl.bioontology.org/ontology/OMIM/MTHU048977

http://purl.bioontology.org/ontology/OMIM/MTHU012163

http://purl.bioontology.org/ontology/OMIM/MTHU067637

http://purl.bioontology.org/ontology/OMIM/MTHU067635
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

241600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

IMMUNODEFICIENCY 43
Scope Statement

Variable severity [MISCELLANEOUS]

Caused by mutation in the beta-2-microglobulin gene (B2M, 109700.0001) [MOLECULAR BASIS]

Some patients may be asymptomatic [MISCELLANEOUS]

Two unrelated families have been reported (last curated November 2015) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565476 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/DOID_0111981 Human Disease Ontology / 人类疾病本体 LOOM