Details of Disease | DrugMAP

General Information of Disease (ID: DISXBT1T)

Disease Name	Hypertrophic osteoarthropathy, primary, autosomal dominant
Synonyms	PDP, autosomal dominant; pachydermoperiostosis, autosomal dominant; Pho, autosomal dominant; hypertrophic osteoarthropathy, primary, autosomal dominant; PHOAD
Disease Hierarchy	DISQO9V4: Primary hypertrophic osteoarthropathy DISPPN0O: Musculoskeletal disorder DISXBT1T: Hypertrophic osteoarthropathy, primary, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0008172 MESH ID D010004 UMLS CUI C2674695 OMIM ID 167100 MedGen ID 382429

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLCO2A1	DT021JD	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPGD	DEHKSC6	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLCO2A1	OT3062CA	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.