Help us test the new version of OLS, with updated versions of ontologies and lots of new features!

https://www.ebi.ac.uk/ols4

JSON

X-linked hypohidrotic ectodermal dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0010585

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. [ MESH : D053358 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_etiological_subtype

abbreviation
XHED [ Orphanet : 181 https://omim.org/entry/305100 MONDO : Lexical ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/x_linked.yaml
definition
  • An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
exactMatch
  • http://identifiers.org/snomedct/239007005
  • https://omim.org/entry/305100
  • http://www.orpha.net/ORDO/Orphanet_181
has exact synonym
  • X-linked anhidrotic ectodermal dysplasia
  • X-linked hypohidrotic ectodermal dysplasia
  • hypohidrotic ectodermal dysplasia, X-linked
  • ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive
  • Christ-Siemens-Touraine syndrome
  • XHED
has related synonym
  • ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked
  • ectodermal dysplasia, hypohidrotic, 1
  • Xlhed
  • ectodermal dysplasia, anhidrotic, X-linked
  • ectodermal dysplasia 1, hypohidrotic, X-linked
  • anhidrotic ectodermal dysplasia X-linked
  • Eda1
  • hypohidrotic ectodermal dysplasia X-linked
  • ectodermal dysplasia 1
  • CST syndrome
id
  • MONDO:0010585
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4521
  • https://github.com/monarch-initiative/mondo/issues/4104