Disease: Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly

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Associated Genes COL9A1 , COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED ) , COL9A2 (Withdrawn symbols: EDM2, MED )

Mouse Orthologs Col9a1 (Withdrawn symbols: Col9a-1 ) , Col9a3 (Withdrawn symbols: AV006866 ) , Col9a2 (Withdrawn symbols: AI427499, Col9a-2 )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)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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