Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	familial expansile osteolysis
Synonyms	McCabe disease
Definitions	A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
ID	http://purl.obolibrary.org/obo/DOID_0111542
database_cross_reference	ORDO:85195 MESH:C536335 GARD:9168 OMIM:174810 UMLS_CUI:C0432292 SNOMEDCT_US_2022_09_01:254153009
definition	A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
has exact synonym	McCabe disease hereditary expansile polyostotic osteolytic dysplasia FEO
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111542
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	familial expansile osteolysis
notation	DOID:0111542
prefLabel	familial expansile osteolysis
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0080005

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/174810	Online Mendelian Inheritance in Man	LOOM