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_2023_03_01:254131007 OMIM:144750 UMLS_CUI:C0432273 MESH:C536748 GARD:390 ORDO:2790 |
|
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 | ||
has_alternative_id |
DOID:0111372 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0080037 |
|
in_subset | ||
label |
Worth syndrome |
|
notation |
DOID:0080037 |
|
prefLabel |
Worth syndrome |
|
textual 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. |
|
subClassOf |
Create mapping