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ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
Uniprot Description A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands.
Mondo Term and Equivalent IDs
MONDO:0015024:  ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
DOID:0111652: 
UMLS:C4310616: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found