epidermolysis bullosa simplex 2E, with migratory circinate erythema

Go to external page http://purl.obolibrary.org/obo/MONDO_0012258


A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. [ https://orcid.org/0000-0001-5208-3432 Orphanet:158681 ]

Synonyms: epidermolysis bullosa simplex 2E, with migratory circinate erythema EBS-migr epidermolysis bullosa simplex with migratory circinate erythema

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563730 (MONDO:equivalentTo)
  • UMLS:C1836284 (MONDO:equivalentTo)
  • OMIM:609352 (Orphanet:158681/e)
  • GARD:16990 (MONDO:GARD)
  • MEDGEN:324475 (MONDO:equivalentTo)
  • SCTID:716700003 (MONDO:equivalentTo)
  • Orphanet:158681 (OMIM:609352)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, mondo_subtype, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_included, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder

exactMatch

http://identifiers.org/medgen/324475

http://www.orpha.net/ORDO/Orphanet_158681

https://omim.org/entry/609352

http://identifiers.org/mesh/C563730

http://linkedlifedata.com/resource/umls/id/C1836284

http://identifiers.org/snomedct/716700003

id

MONDO:0012258

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4499