Disease: Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia

Name Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia


Classification bone, developmental, genetic, otorhinolaryngological

Phenotypes Absent radius; Anterior vertebral fusion; Aplasia/Hypoplasia of the thumb; Arrhythmia; Asymmetric radial dysplasia; Autosomal dominant inheritance; Conductive hearing impairment; Downslanted palpebral fissures; Elbow dislocation; Fibular hypoplasia; Genu varum; Lateral clavicle hook; Long clavicles; Long philtrum; Malar flattening; Mesomelic arm shortening; Microtia; Midface retrusion; Phocomelia; Radioulnar synostosis; Short 2nd metacarpal; Short humerus; Short stature; Shoulder dislocation; Split hand; Stenosis of the external auditory canal; Ulnar bowing

Associated Genes -

Mouse Orthologs -

Source OMIM:171480 (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:171480 by orthology to a human gene.

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