Details of Disease

General Information of Disease (ID: DISZ97RP)

Disease Name Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Synonyms
ECTD12; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12; KDF1 ectodermal dysplasia syndrome; ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type; ectodermal dysplasia syndrome caused by mutation in KDF1
Definition Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISZ97RP: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Disease Identifiers
MONDO ID
MONDO_0015024
UMLS CUI
C4310616
OMIM ID
617337
MedGen ID
934583

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KDF1 OTNMH6OS Strong Autosomal dominant [1]
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References

1 Estradiol, reproductive cycle and preference behavior in a northern swordtail. Gen Comp Endocrinol. 2011 Jan 15;170(2):381-90. doi: 10.1016/j.ygcen.2010.10.012. Epub 2010 Oct 25.