Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandOsteochondritis (D010007)
..Starting node
..expandOsteochondritis Dissecans (D010008)

       Child Nodes:
........expandFamilial Osteochondritis Dissecans (C580095)
........expandOSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)



 Sister Nodes: 
..expandFreiberg's disease (C535636)
..expandNathalie syndrome (C538342)
..expandOsteochondritis Dissecans (D010008) Child2
..expandRuvalcaba Syndrome (C579395)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8380
Name:Osteochondritis Dissecans
Definition:A type of osteochondritis in which articular cartilage and associated bone becomes partially or totally detached to form joint loose bodies. Affects mainly the knee, ankle, and elbow joints.
Alternative IDs:
ParentIDs:MESH:D010007
TreeNumbers:C05.116.791.668
Synonyms:Dissecans, Osteochondritis
Slim Mappings:Musculoskeletal disease
Reference: MedGen: D010008
MeSH: D010008
OMIM: 165800;

Genes: ACAN;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000924Abnormality of the skeletal system
3 HP:0100777Exostoses
4 HP:0001507Growth abnormality
5 HP:0002758Osteoarthritis
6 HP:0010886Osteochondritis Dissecans
7 HP:0004322Short stature
8 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_013227.3(ACAN):c.7249G>A (p.Val2417Met)176ACANPathogenic267606625RCV000015376; NMedGen:C0029421,OMIM:165800,ORPHA:2764,SNOMED CT:82562007158941617289416172NM_013227.3:c.7249G>ANP_037359.3:p.Val2417MetNC_000015.9:g.89416172G>AOMIM Allelic Variant:155760.0003C0029421 165800 Osteochondritis dissecans