Details of Disease

General Information of Disease (ID: DISGEI76)

Disease Name Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Synonyms ECTD14; ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISGEI76: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Disease Identifiers
MONDO ID
MONDO_0032584
UMLS CUI
C4748560
OMIM ID
618180
MedGen ID
1648329

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
TSPEAR OT2LKDD0 Strong Autosomal recessive [1]
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References

1 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. PLoS Genet. 2016 Oct 13;12(10):e1006369. doi: 10.1371/journal.pgen.1006369. eCollection 2016 Oct.