Details of Disease

General Information of Disease (ID: DISGAIXY)

Disease Name Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Synonyms
ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3; EEC3; ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3; EEC syndrome caused by mutation in TP63; TP63 EEC syndrome; EEC syndrome 3
Definition Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
Disease Hierarchy
DISIYS7L: EEC syndrome
DISGAIXY: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Disease Identifiers
MONDO ID
MONDO_0011428
MESH ID
C565799
UMLS CUI
C1858562
OMIM ID
604292
MedGen ID
347666

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
TP63 OT0WOOKQ Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.