Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Worth syndrome
Synonyms	autosomal dominant endosteal hyperostosis
Definitions	A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
ID	http://purl.obolibrary.org/obo/DOID_0080037
database_cross_reference	SNOMEDCT_US_2022_09_01:254131007 MESH:C536748 UMLS_CUI:C0432273 GARD:390 OMIM:144750 ORDO:2790
definition	A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
has exact synonym	autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis Worth's syndrome benign form of Worth hyperostosis corticalis generalisata with torus platinus
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_alternative_id	DOID:0111372
has_obo_namespace	disease_ontology
id	DOID:0080037
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Worth syndrome
notation	DOID:0080037
prefLabel	Worth syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_205

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536748	Medical Subject Headings	LOOM