Name Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Synonyms -
Classification bone, developmental, genetic
Phenotypes Abnormality of epiphysis morphology; Arthralgia; Gait disturbance; Genu valgum; Genu varum; Hip dysplasia; Limitation of joint mobility; Micromelia; Osteoarthritis; Short stature
Associated Genes COL9A1 , COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ) , COL9A2 (Withdrawn symbols: EDM2, MED )
Mouse Orthologs Col9a1 (Withdrawn symbols: Col9a-1 ) , Col9a3 (Withdrawn symbols: AV006866 ) , Col9a2 (Withdrawn symbols: AI427499, Col9a-2 )
Source
ORPHA:166002 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)