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epidermolysis bullosa simplex

Go to external page http://purl.obolibrary.org/obo/MONDO_0017610

Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. [ Orphanet:304 ]

Synonyms: EEB EBS epidermolysis bullosa simplex

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:1860717527 (Orphanet:304)
  • DOID:4644 (MONDO:equivalentTo)
  • NANDO:2201341 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:304 (MONDO:equivalentTo)
  • GARD:10752 (MONDO:GARD)
  • OMIMPS:131760 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • SCTID:67144006 (MONDO:equivalentTo)
  • NANDO:2201375 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D016110 (MONDO:equivalentTo)
  • NANDO:1200235 (https://orcid.org/0000-0003-0011-764X)
  • ICD10CM:Q81.0 (Orphanet:304/specific)
  • NCIT:C84692 (MONDO:equivalentTo)
  • UMLS:C0079298 (MONDO:equivalentTo)
  • MEDGEN:86896 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_integumentary_system_disorder, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_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, icd10_billable, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_integumentary_system_disorder

abbreviation
EBS [ Orphanet:304 ]

exactMatch

https://omim.org/phenotypicSeries/PS131760

http://purl.obolibrary.org/obo/NCIT_C84692

http://www.orpha.net/ORDO/Orphanet_304

http://purl.obolibrary.org/obo/DOID_4644

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1860717527

http://linkedlifedata.com/resource/umls/id/C0079298

http://identifiers.org/mesh/D016110

http://identifiers.org/medgen/86896

http://purl.bioontology.org/ontology/ICD10CM/Q81.0

http://identifiers.org/snomedct/67144006

has related synonym

epidermolysis bullosa intraepidermic

id

MONDO:0017610

seeAlso

https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex

should conform to

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

Term relations