Details of Disease

General Information of Disease (ID: DIS6DR19)

Disease Name Acroosteolysis
Synonyms acroosteolysis
Definition A condition that is characterized by degeneration of the distal phalanges.
Disease Hierarchy
DISOTEY1: Primary osteolysis
DIS6DR19: Acroosteolysis
Disease Identifiers
MONDO ID
MONDO_0007056
MESH ID
D030981
UMLS CUI
C0917990
OMIM ID
102400
MedGen ID
183017
HPO ID
HP:0009771
SNOMED CT ID
27201004

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
NOTCH2 TT82FVD Strong Genetic Variation [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 Strong Genetic Variation [2]
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References

1 The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone.Am J Pathol. 2018 Jan;188(1):149-159. doi: 10.1016/j.ajpath.2017.09.010. Epub 2017 Oct 14.
2 A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.Clin Exp Rheumatol. 2010 Mar-Apr;28(2):153-7. Epub 2010 May 13.