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ectodermal dysplasia-sensorineural deafness syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009146:  ectodermal dysplasia-sensorineural deafness syndrome
GARD:0009723: 
MESH:C535757: 
MESH:C565606: 
Orphanet:1883: 
UMLS:C1857068: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found