Details of Disease | DrugMAP

General Information of Disease (ID: DISSFZ25)

Disease Name	Autosomal dominant brachyolmia
Synonyms	brachyrachia; brachyolmia autosomal dominant; BCYM3; brachyolmia, autosomal dominant; brachyolmia type 3
Definition	Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
Disease Hierarchy	DISK6FWF: Brachyolmia DISRJWLL: TRPV4-related bone disorder DIS3HIWD: Autosomal dominant disease DISSFZ25: Autosomal dominant brachyolmia
Disease Identifiers	MONDO ID MONDO_0007232 MESH ID C562963 UMLS CUI C0432227 OMIM ID 113500 MedGen ID 96583 Orphanet ID 93304 SNOMED CT ID 717264003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Limited	Genetic Variation	[1]
TRPV4	TTKP2SU	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	OTPZKQLX	Strong	Autosomal dominant	[2]
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References

1	Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.