JSON

erythrokeratodermia variabilis

Go to external page http://purl.obolibrary.org/obo/MONDO_0017851

A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. [ NCIT:C84696 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: EKV erythrokeratodermia variabilis progressive symmetric erythrokeratodermia Ichthyosis, Erythrokeratodermia Variabilis erythrokeratodermia variabilis, Mendes da Costa type erythrokeratodermia figurata variabilis erythrokeratodermia progressiva symmetrica Darier-Gottron disease progressive symmetric erythrokeratodermia, Gottron type

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84696 (MONDO:equivalentTo)
  • MESH:C536154 (MONDO:equivalentTo)
  • Orphanet:308166 (MONDO:equivalentTo)
  • Orphanet:316 (OMIM:133200)
  • DOID:0050467 (MONDO:equivalentTo)
  • MEDGEN:75587 (MONDO:equivalentTo)
  • SCTID:70041004 (MONDO:equivalentTo)
  • MESH:D056266 (MONDO:equivalentTo)
  • GARD:16528 (MONDO:GARD)
  • Orphanet:317 (OMIM:133200)
  • MedDRA:10049048 (Orphanet:317/e)
  • UMLS:C0265961 (MONDO:equivalentTo)
  • OMIMPS:133200 (MONDO:equivalentTo)
  • NORD:1285 (MONDO:NORD)
Subsets

gard_rare, ordo_disorder, otar, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6534

closeMatch

http://identifiers.org/meddra/10049048

exactMatch

http://linkedlifedata.com/resource/umls/id/C0265961

http://purl.obolibrary.org/obo/DOID_0050467

http://www.orpha.net/ORDO/Orphanet_317

http://identifiers.org/snomedct/70041004

http://www.orpha.net/ORDO/Orphanet_316

http://identifiers.org/mesh/D056266

http://identifiers.org/mesh/C536154

http://www.orpha.net/ORDO/Orphanet_308166

http://identifiers.org/medgen/75587

https://omim.org/phenotypicSeries/PS133200

http://purl.obolibrary.org/obo/NCIT_C84696

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0009490

http://purl.obolibrary.org/obo/MONDO_0017681

has related synonym

erythrokeratodermia, progressive symmetric

EKVP

erythrokeratodermia variabilis with erythema gyratum repens

keratosis palmoplantaris transgrediens et progrediens

keratoderma palmoplantaris transgrediens

erythrokeratodermia variabilis with erythema Gyratum Repens

erythrokeratodermia variabilis ET progressiva

keratosis extremitatum hereditaria progrediens

erythrokeratodermia figurata, congenital familial, in plaques

id

MONDO:0017851

seeAlso

https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens