Details of Disease

General Information of Disease (ID: DISPA71J)

Disease Name Short stature-advanced bone age-early-onset osteoarthritis syndrome
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISPA71J: Short stature-advanced bone age-early-onset osteoarthritis syndrome
Disease Identifiers
MONDO ID
MONDO_0018566
UMLS CUI
C5681177
MedGen ID
1811782
Orphanet ID
435804
SNOMED CT ID
1197586007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACAN OTUOCW8K Supportive Autosomal dominant [1]
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References

1 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.