Details of Disease

Disease Name

swimmer's exostosis; orbital exostosis; osteophyte; exostosis; bony outgrowth; bone spur; bone osteophyte

Definition

Non-neoplastic overgrowth of bone.|Editor note: compare with osteophyte

Disease Hierarchy

DIS60EOE: Hyperostosis

DIS3VKEI: Exostosis

Disease Identifiers

MONDO ID

MONDO_0002181

MESH ID

D005096

UMLS CUI

C1442903

MedGen ID

257035

HPO ID

HP:0100777

SNOMED CT ID

416189003

General Information of Disease (ID: DIS3VKEI)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Alendronate	DMY2KX9	Approved	Small molecular drug	[1]
Cholecalciferol	DMGU74E	Approved	Small molecular drug	[2]
Teriparatide	DMMC45B	Approved	Peptide	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	TTH4VJL	Strong	Genetic Variation	[4]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXT2	OT8IR5QN	Disputed	Biomarker	[5]
EXT1	OTRPALJK	moderate	Biomarker	[5]
COL12A1	OTHLTV53	Strong	Biomarker	[6]
EXTL3	OT2BRUBN	Strong	Biomarker	[7]
TRPS1	OT7XPPEL	Strong	Genetic Variation	[8]
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References

1	Alendronate FDA Label
2	Cholecalciferol FDA Label
3	Teriparatide FDA Label
4	A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.Am J Med Genet A. 2018 Feb;176(2):455-459. doi: 10.1002/ajmg.a.38571. Epub 2017 Dec 11.
5	Heparanase stimulates chondrogenesis and is up-regulated in human ectopic cartilage: a mechanism possibly involved in hereditary multiple exostoses.Am J Pathol. 2015 Jun;185(6):1676-85. doi: 10.1016/j.ajpath.2015.02.014. Epub 2015 Apr 8.
6	Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22).Int J Cancer. 2006 Apr 15;118(8):1972-6. doi: 10.1002/ijc.21586.
7	EXTL3 promoter methylation down-regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers.J Pathol. 2008 Sep;216(1):32-42. doi: 10.1002/path.2377.
8	Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.Am J Med Genet A. 2014 Mar;164A(3):760-3. doi: 10.1002/ajmg.a.36327. Epub 2013 Dec 19.