Details of Disease

General Information of Disease (ID: DISNSYSS)

Disease Name Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Synonyms osteochondritis dissecans and short stature; osteochondritis dissecans, short stature, and early-onset osteoarthritis; SSOAOD; OD
Definition
A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Disease Hierarchy
DISKV001: Osteonecrosis of genetic origin
DISNSYSS: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Disease Identifiers
MONDO ID
MONDO_0100462
MESH ID
C580095
UMLS CUI
C3665488
OMIM ID
165800
MedGen ID
777109
Orphanet ID
251262
SNOMED CT ID
715899006

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 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.