Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	immunodeficiency 43
Synonyms	IMD43 beta-2-microglobulin deficiency B2M deficiency hypercatabolic hypoproteinemia
Definitions	A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
ID	http://purl.obolibrary.org/obo/DOID_0111981
database_cross_reference	OMIM:241600 MESH:C565476
definition	A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
has exact synonym	IMD43 beta-2-microglobulin deficiency B2M deficiency hypercatabolic hypoproteinemia
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111981
label	immunodeficiency 43
notation	DOID:0111981
prefLabel	immunodeficiency 43
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_612

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/241600	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM