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hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009150:  hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
GARD:0002049: 
MESH:C565604: 
Orphanet:1882: 
SCTID:239050000: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found