JSON

epidermolysis bullosa simplex 1C, localized

Go to external page http://purl.obolibrary.org/obo/MONDO_0007551

A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. [ https://orcid.org/0000-0001-5208-3432 Orphanet:79400 ]

Synonyms: localised epidermolysis bullosa simplex localized epidermolysis bullosa simplex epidermolysis bullosa simplex of palms and soles EBS-loc epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex, Weber-Cockayne type

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:87016 (MONDO:equivalentTo)
  • GARD:2146 (MONDO:GARD)
  • ICD9:757.39 (MONDO:relatedTo)
  • OMIM:131800 (Orphanet:79400/e)
  • UMLS:C0080333 (MONDO:equivalentTo)
  • DOID:0080510 (MONDO:equivalentTo)
  • Orphanet:79400 (OMIM:131800)
  • SCTID:294705005 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, mondo_subtype, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, 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

UK spelling synonym
epidermolysis bullosa simplex, localised

UK spelling synonym
localised epidermolysis bullosa simplex

exactMatch

http://www.orpha.net/ORDO/Orphanet_79400

http://identifiers.org/snomedct/294705005

http://purl.obolibrary.org/obo/DOID_0080510

http://identifiers.org/medgen/87016

http://linkedlifedata.com/resource/umls/id/C0080333

https://omim.org/entry/131800

has related synonym

Weber-Cockayne type epidermolysis bullosa simplex

epidermolysis bullosa simplex, localised

EBS, acral form

epidermolysis bullosa simplex, localized

Weber-Cockayne syndrome

epidermolysis bullosa of hands and feet

id

MONDO:0007551

seeAlso

https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized

term tracker item

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

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