Disease: Metaphyseal Chondrodysplasia, Schmid Type

Name Metaphyseal Chondrodysplasia, Schmid Type

Synonyms SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE

Classification bone, developmental, genetic

Phenotypes Autosomal dominant inheritance; Broad middle phalanx of finger; Coxa vara; Distal tibial bowing; Enlargement of the proximal femoral epiphysis; Femoral bowing; Genu varum; Irregular acetabular roof; Irregular vertebral endplates; Metaphyseal chondrodysplasia; Metaphyseal cupping of metacarpals; Metaphyseal cupping of proximal phalanges; Mild short stature; Platyspondyly; Proximal femoral metaphyseal abnormality; Short distal phalanx of finger; Short middle phalanx of finger; Waddling gait

Associated Genes COL10A1

Mouse Orthologs Col10a1 (Withdrawn symbols: Col10a-1 )

Source OMIM:156500 (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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