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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. [ Orphanet:79373 ]

Synonyms: ectodermal dysplasia congenital ectodermal defect ectodermal dysplasia (select examples)

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:2121 (MONDO:equivalentTo)
  • UMLS:C0013575 (Orphanet:79373/e)
  • GARD:6317 (Orphanet:79373)
  • MedDRA:10010452 (Orphanet:79373/e)
  • MESH:D004476 (Orphanet:79373/e)
  • OMIMPS:305100 (MONDO:equivalentTo)
  • NCIT:C84683 (MONDO:equivalentTo)
  • ICD9:757.31 (MONDO:i2s)
  • SCTID:8654005 (MONDO:equivalentTo)
  • Orphanet:79373 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, 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://www.orpha.net/ORDO/Orphanet_79373

http://purl.obolibrary.org/obo/DOID_2121

http://purl.obolibrary.org/obo/NCIT_C84683

id

MONDO:0019287

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml