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junctional epidermolysis bullosa Herlitz type

Go to external page http://purl.obolibrary.org/obo/MONDO_0009182

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]

Synonyms: JEB-H Herlitz-Pearson-type epidermolysis bullosa epidermolysis bullosa letalis Herlitz type epidermolysis bullosa junctionalis JEB-Herlitz type JEB, generalised severe junctional epidermolysis bullosa generalisata gravis JEB, generalized severe junctional epidermolysis bullosa, Herlitz-Pearson type

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:2153 (MONDO:GARD)
  • Orphanet:79404 (OMIM:226700)
  • SCTID:400140006 (MONDO:equivalentTo)
  • OMIM:226700 (Orphanet:79404/e)
  • NANDO:2200119 (https://orcid.org/0000-0003-0011-764X)
  • DOID:0060737 (MONDO:equivalentTo)
  • UMLS:C0079683 (MONDO:equivalentTo)
  • NANDO:1201065 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:36328 (MONDO:equivalentTo)
  • NANDO:2201378 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, 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, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder

UK spelling synonym
junctional epidermolysis bullosa, generalised severe

UK spelling synonym
JEB, generalised severe

abbreviation
JEB-H [ DOID:0060737 Orphanet:79404 ]

exactMatch

http://identifiers.org/medgen/36328

http://www.orpha.net/ORDO/Orphanet_79404

http://linkedlifedata.com/resource/umls/id/C0079683

http://identifiers.org/snomedct/400140006

http://purl.obolibrary.org/obo/DOID_0060737

https://omim.org/entry/226700

has related synonym

Herlitz-Pearson type epidermolysis bullosa

epidermolysis bullosa, junctional, Herlitz type

epidermolysis bullosa, junctional, Herlitz-Pearson type

junctional epidermolysis bullosa, generalised severe

epidermolysis bullosa Junctionalis, Herlitz type

junctional epidermolysis bullosa, Herlitz type

junctional epidermolysis bullosa, generalized severe

id

MONDO:0009182

seeAlso

https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type