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

Synonyms: Clouston syndrome Clouston's hidrotic ectodermal dysplasia 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
  • Orphanet:189 (OMIM:129500)
  • UMLS:C0162361 (MONDO:equivalentTo)
  • OMIM:129500 (Orphanet:189/e)
  • SCTID:54209007 (MONDO:equivalentTo)
  • MEDGEN:56416 (MONDO:equivalentTo)
  • GARD:2056 (MONDO:GARD)
  • DOID:14693 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, clingen, rare, orphanet_rare, do_inheritance_inconsistent, mondo_top_grouping_syndromic_disease, harrisons_view_integumentary_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
ED2 [ GARD:0002056 ]

ClinGen label
Clouston syndrome [ https://omim.org/entry/129500 DOID:14693 Orphanet:189 ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0007510

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

Patel Bixler syndrome

ectodermal dysplasia 2, Clouston type

ectodermal dysplasia, hidrotic, 2, formerly

ectodermal dysplasia, hidrotic, autosomal dominant

id

MONDO:0007510