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epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

Go to external page http://purl.obolibrary.org/obo/MONDO_0010976

A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. [ Orphanet:89838 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: KRT14-related autosomal recessive EBS EBS-AR KRT14 EBS, autosomal recessive K14 KRT14-related epidermolysis bullosa simplex KRT14-related autosomal recessive epidermolysis bullosa simplex epidermolysis bullosa simplex, autosomal recessive type 1 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:811576 (MONDO:equivalentTo)
  • UMLS:C3715082 (MONDO:equivalentTo)
  • GARD:16778 (MONDO:GARD)
  • MESH:C563408 (MONDO:equivalentTo)
  • OMIM:601001 (Orphanet:89838/e)
  • Orphanet:89838 (OMIM:601001)
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, mondo_subtype, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_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
EBSB1 [ MONDO:Lexical ]

exactMatch

http://identifiers.org/mesh/C563408

http://www.orpha.net/ORDO/Orphanet_89838

http://linkedlifedata.com/resource/umls/id/C3715082

http://identifiers.org/medgen/811576

https://omim.org/entry/601001

has related synonym

epidermolysis bullosa simplex, autosomal recessive 1

epidermolysis bullosa simplex, autosomal recessive K14

EBSB1

id

MONDO:0010976

term tracker item

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

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