Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

ectodermal dysplasia syndrome
Synonyms

congenital ectodermal defect

ectodermal dysplasia

ectodermal dysplasia (select examples)
Definitions

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
ID

http://purl.obolibrary.org/obo/MONDO_0019287
has_exact_synonym

congenital ectodermal defect

ectodermal dysplasia

ectodermal dysplasia (select examples)
label

ectodermal dysplasia syndrome
prefixIRI

MONDO:0019287
prefLabel

ectodermal dysplasia syndrome
textual definition

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0021026

http://purl.obolibrary.org/obo/MONDO_0002254
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