Terminology Service for NFDI4Health

ectodermal dysplasia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019287


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. [ ]

Term info

Label

ectodermal dysplasia syndrome

Synonyms
  • congenital ectodermal defect
  • ectodermal dysplasia
  • ectodermal dysplasia (select examples)
database cross reference
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10010452

exactMatch

http://linkedlifedata.com/resource/umls/id/C0013575, http://identifiers.org/snomedct/8654005, http://identifiers.org/mesh/D004476, https://omim.org/phenotypicSeries/PS305100, http://purl.obolibrary.org/obo/Orphanet_79373, http://purl.obolibrary.org/obo/DOID_2121, http://purl.obolibrary.org/obo/NCIT_C84683

id

MONDO:0019287