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multiple epiphyseal dysplasia

Disease Summary
Associated Targets (26)
Tbio

18

Tclin

5

Tchem

3


GARD Rare
Mondo Description Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.
Disease Ontology Description An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
Mondo Term and Equivalent IDs
MONDO:0016648:  multiple epiphyseal dysplasia
COHD:434161: 
GARD:0010756: 
ICD9:756.56: 
OMIMPS:132400: 
Orphanet:251: 
SCTID:59708000: