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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. [ https://orcid.org/0000-0001-5208-3432 NCIT:C84696 ]

Synonyms: EKV erythrokeratodermia variabilis progressive symmetric erythrokeratodermia erythrokeratodermia variabilis, Mendes da Costa type Ichthyosis, Erythrokeratodermia Variabilis 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
  • UMLS:C0265961 (MONDO:equivalentTo)
  • icd11.foundation:551200965 (MONDO:equivalentTo)
  • OMIMPS:133200 (MONDO:equivalentTo)
  • Orphanet:317 (OMIM:133200)
  • Orphanet:308166 (MONDO:equivalentTo)
  • SCTID:70041004 (MONDO:equivalentTo)
  • NORD:1285 (MONDO:NORD)
  • NCIT:C84696 (MONDO:equivalentTo)
  • MESH:D056266 (MONDO:equivalentTo)
  • MedDRA:10049048 (Orphanet:317/e)
  • MEDGEN:75587 (MONDO:equivalentTo)
  • GARD:16528 (MONDO:GARD)
  • DOID:0050467 (MONDO:equivalentTo)
  • MESH:C536154 (MONDO:equivalentTo)
  • Orphanet:316 (OMIM:133200)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_integumentary_system_disorder, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, rare, orphanet_rare, harrisons_view_integumentary_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, 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, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, ordo_group_of_disorders

abbreviation
EKV [ Orphanet:317 ]

ClinGen label
erythrokeratodermia variabilis [ icd11.foundation:551200965 Orphanet:317 NCIT:C84696 DOID:0050467 ]

abbreviation
EKVP [ MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10049048

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0017851

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/551200965

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

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

http://identifiers.org/snomedct/70041004

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

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

http://identifiers.org/mesh/C536154

http://identifiers.org/mesh/D056266

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

keratosis extremitatum hereditaria progrediens

erythrokeratodermia variabilis ET progressiva

erythrokeratodermia figurata, congenital familial, in plaques

id

MONDO:0017851

seeAlso

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

should conform to

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

term tracker item

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