Disease: Mesomelic Dysplasia, Savarirayan Type

Name Mesomelic Dysplasia, Savarirayan Type

Synonyms MESOMELIC DYSPLASIA WITH ABSENT FIBULAS AND TRIANGULAR TIBIAS

Classification bone, developmental, genetic

Phenotypes Abnormal foot morphology; Abnormality of the thorax; Autosomal dominant inheritance; Delayed closure of the anterior fontanelle; Dislocated radial head; Fibular aplasia; Global developmental delay; Hip dislocation; Mesomelia; Short stature; Short tibia; Talipes equinovalgus

Associated Genes -

Mouse Orthologs -

Source OMIM:605274 (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

No mouse models associated with OMIM:605274 by orthology to a human gene.

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