Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	hypoproteinemia, hypercatabolic
Synonyms	Beta-2-microglobulin deficiency immunodeficiency 43 B2M deficiency IMD43 hypoproteinemia, hypercatabolic
ID	http://purl.obolibrary.org/obo/MONDO_0009434
database_cross_reference	MESH:C565476 OMIM:241600 DOID:0111981 GARD:15185 UMLS:C1855796
exactMatch	http://identifiers.org/mesh/C565476 https://omim.org/entry/241600 http://linkedlifedata.com/resource/umls/id/C1855796 http://purl.obolibrary.org/obo/DOID_0111981
has material basis in germline mutation in	http://identifiers.org/hgnc/914
has_exact_synonym	hypoproteinemia, hypercatabolic
has_related_synonym	Beta-2-microglobulin deficiency immunodeficiency 43 B2M deficiency IMD43
id	MONDO:0009434
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#gard_rare
label	hypoproteinemia, hypercatabolic
notation	MONDO:0009434
prefLabel	hypoproteinemia, hypercatabolic
treeView	http://purl.obolibrary.org/obo/MONDO_0021094
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0011476
subClassOf	http://purl.obolibrary.org/obo/MONDO_0021094

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009434	DOVES	SAME_URI
http://purl.bioontology.org/ontology/MESH/C565476	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565476	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0009434	DOVES	LOOM