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ectodermal dysplasia syndrome

^ 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. [ Orphanet:79373 ]

Term info

database cross reference
  • OMIMPS:305100 (MONDO:equivalentTo)
  • MedDRA:10010452 (Orphanet:79373/e)
  • MESH:D004476 (Orphanet:79373/e)
  • DOID:2121 (MONDO:equivalentTo)
  • Orphanet:79373 (MONDO:equivalentTo)
  • UMLS:C0013575 (Orphanet:79373/e)
  • ICD9:757.31 (MONDO:i2s)
  • GARD:0006317 (MONDO:equivalentTo)
  • NCIT:C84683 (MONDO:equivalentTo)
  • SCTID:8654005 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10010452

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.

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

has exact synonym

ectodermal dysplasia, congenital ectodermal defect, ectodermal dysplasia (select examples)

id

MONDO:0019287