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Metadata
ID DOID:0080037
Name Worth syndrome
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.
http://en.wikipedia.org/wiki/Worth_syndrome, https://pubmed.ncbi.nlm.nih.gov/29709743, https://www.ncbi.nlm.nih.gov/pubmed/12579474, https://www.ncbi.nlm.nih.gov/pubmed/4942110
Xrefs

GARD:390

MESH:C536748

OMIM:144750

ORDO:2790

SNOMEDCT_US_2023_03_01:254131007

UMLS_CUI:C0432273

Alternateids

DOID:0111372

Subsets

DO_rare_slim

Synonyms

autosomal dominant endosteal hyperostosis [EXACT]

autosomal dominant osteosclerosis [EXACT]

benign form of Worth hyperostosis corticalis generalisata with torus platinus [EXACT]

Worth's syndrome [EXACT]

Parent Relationships

is_a hyperostosis

is_a autosomal dominant disease

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