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[X] epidermolysis bullosa dystrophica

Go to external page http://purl.obolibrary.org/obo/MONDO_0006543

A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. [ NCIT:P378 ]

Synonyms: DEB dermolytic epidermolysis bullosa epidermolysis bullosa dystrophica

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D016108 (MONDO:equivalentTo)
  • GARD:2150 (MONDO:GARD)
  • SCTID:254185007 (MONDO:equivalentTo)
  • Wikipedia:Epidermolysis_bullosa_dystrophica (EFO:1000692)
  • MEDGEN:37179 (MONDO:equivalentTo)
  • Orphanet:303 (MONDO:equivalentTo)
  • NCIT:C84691 (MONDO:equivalentTo)
  • icd11.foundation:1060981106 (https://orcid.org/0000-0002-4142-7153)
  • EFO:1000692 (MONDO:equivalentTo)
  • DOID:4959 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • UMLS:C0079294 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, disease_grouping, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, 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, ordo_group_of_disorders, harrisons_view_integumentary_system_disorder

abbreviation
DEB [ Orphanet:303 ]

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1060981106

http://purl.obolibrary.org/obo/NCIT_C84691

http://identifiers.org/mesh/D016108

http://identifiers.org/snomedct/254185007

http://identifiers.org/medgen/37179

http://www.orpha.net/ORDO/Orphanet_303

http://www.ebi.ac.uk/efo/EFO_1000692

http://linkedlifedata.com/resource/umls/id/C0079294

http://purl.obolibrary.org/obo/DOID_4959

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006541

has related synonym

epidermolysis bullosa, dermolytic

id

MONDO:0006543

term tracker item

https://github.com/monarch-initiative/mondo/issues/3856

Term relations