Disease: Auriculocondylar Syndrome 3

Name Auriculocondylar Syndrome 3

Synonyms -

Classification bone, developmental, genetic, otorhinolaryngological, surgical maxillo-facial

Phenotypes Autosomal recessive inheritance; Bifid uvula; Bilateral conductive hearing impairment; Full cheeks; Glossoptosis; Laryngeal cleft; Micrognathia; Question mark ear; Retrognathia; Stenosis of the external auditory canal

Associated Genes EDN1 (Withdrawn symbols: ET1 )

Mouse Orthologs Edn1

Source OMIM:615706 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models 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.