Details of Disease

General Information of Disease (ID: DISUYF88)

Disease Name Odonto-onycho-dermal dysplasia
Synonyms odontoonychodermal dysplasia; ectodermal dysplasia; OODD
Definition A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DIS7C7EV: Ectodermal dysplasia WNT10A related
DIS6O9JS: Diffuse palmoplantar keratoderma
DISUYF88: Odonto-onycho-dermal dysplasia
Disease Identifiers
MONDO ID
MONDO_0009773
MESH ID
C537742
UMLS CUI
C0796093
OMIM ID
257980
MedGen ID
208666
Orphanet ID
2721
SNOMED CT ID
403762003

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
WNT10A OTJ0DNZI Strong Autosomal recessive [1]
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References

1 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet. 2007 Oct;81(4):821-8. doi: 10.1086/520064. Epub 2007 Aug 9.