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epidermolysis bullosa simplex 1A, generalized severe

Go to external page http://purl.obolibrary.org/obo/MONDO_0007550

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. [ https://orcid.org/0000-0001-5208-3432 Orphanet:79396 ]

Synonyms: epidermolysis bullosa simplex 1A, generalized severe EBSDM EBS, generalised severe epidermolysis bullosa simplex, herpetiformis epidermolysis bullosa simplex Dowling-Meara type generalised severe epidermolysis bullosa simplex EBS-gen sev EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type generalized severe epidermolysis bullosa simplex

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060735 (MONDO:equivalentTo)
  • Orphanet:79396 (OMIM:131760)
  • MEDGEN:38194 (MONDO:equivalentTo)
  • UMLS:C0079295 (MONDO:equivalentTo)
  • OMIM:131760 (Orphanet:79396/e)
  • GARD:2141 (MONDO:GARD)
  • ICD9:771.2 (MONDO:relatedTo)
  • SCTID:254179000 (MONDO:equivalentTo)
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__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, 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

abbreviation
EBSDM [ DOID:0060735 MONDO:Lexical ]

UK spelling synonym
generalised severe epidermolysis bullosa simplex

UK spelling synonym
epidermolysis bullosa simplex, generalised severe

UK spelling synonym
EBS, generalised severe

exactMatch

http://purl.obolibrary.org/obo/DOID_0060735

https://omim.org/entry/131760

http://identifiers.org/snomedct/254179000

http://linkedlifedata.com/resource/umls/id/C0079295

http://identifiers.org/medgen/38194

http://www.orpha.net/ORDO/Orphanet_79396

has related synonym

epidermolysis bullosa herpetiformis, Dowling-Meara type

epidermolysis bullosa simplex, Dowling-Meara type

EBS-DM

epidermolysis bullosa simplex, generalized severe

Dowling-Meara type epidermolysis bullosa simplex

epidermolysis bullosa simplex, generalised severe

id

MONDO:0007550

seeAlso

https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type

term tracker item

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

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