Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. [ Orphanet:189 ]

Synonyms: Clouston's hidrotic ectodermal dysplasia Clouston syndrome Clouston's syndrome hidrotic ectodermal dysplasia hidrotic ectodermal dysplasia syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:14693 (MONDO:equivalentTo)
  • UMLS:C0162361 (MONDO:equivalentTo)
  • SCTID:54209007 (MONDO:equivalentTo)
  • OMIM:129500 (Orphanet:189/e)
  • Orphanet:189 (OMIM:129500)
  • GARD:2056 (MONDO:GARD)
  • MEDGEN:56416 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen, do_inheritance_inconsistent

ClinGen label
Clouston syndrome [ https://omim.org/entry/129500 Orphanet:189 ]

abbreviation
ED2 [ GARD:0002056 ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_189

http://identifiers.org/medgen/56416

http://purl.obolibrary.org/obo/DOID_14693

https://omim.org/entry/129500

http://linkedlifedata.com/resource/umls/id/C0162361

http://identifiers.org/snomedct/54209007

has related synonym

palmoplantar hyperkeratosis and alopecia

ED2

ectodermal dysplasia, hidrotic

alopecia, dysplastic nails, palmar and plantar hyperkeratosis

autosomal dominant hidrotic ectodermal dysplasia

Clouston hidrotic ectodermal dysplasia

ectodermal dysplasia, hidrotic, 2

hidrotic ectodermal dysplasia, autosomal dominant

ectodermal dysplasia 2, Clouston type

Patel Bixler syndrome

ectodermal dysplasia, hidrotic, 2, formerly

ectodermal dysplasia, hidrotic, autosomal dominant

id

MONDO:0007510