epidermolysis bullosa simplex 1B, generalized intermediate
Go to external page http://purl.obolibrary.org/obo/MONDO_0007554
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. [ Orphanet:79399 ]
Synonyms: EBS, generalized intermediate epidermolysis bullosa simplex 1B, generalized intermediate generalized epidermolysis bullosa simplex, non-Dowling-Meara type generalised EBS, non-Dowling-Meara type epidermolysis bullosa simplex, Köbner type epidermolysis bullosa simplex, Koebner type generalized EBS, non-Dowling-Meara type epidermolysis bullosa simplex, Kobner type generalised epidermolysis bullosa simplex, non-Dowling-Meara type EBS, generalised intermediate
Term information
- ICD9:757.39 (MONDO:relatedTo)
- MEDGEN:1794134 (MONDO:equivalentTo)
- DOID:0080511 (MONDO:equivalentTo)
- Orphanet:79399 (OMIM:131900)
- UMLS:C5561924 (MONDO:equivalentTo)
- GARD:2147 (MONDO:GARD)
- SCTID:90496008 (MONDO:equivalentTo)
- OMIM:131900 (Orphanet:79399/e)
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, 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_included, 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
http://identifiers.org/snomedct/90496008
http://identifiers.org/medgen/1794134
http://linkedlifedata.com/resource/umls/id/C5561924
http://purl.obolibrary.org/obo/DOID_0080511
https://omim.org/entry/131900
http://www.orpha.net/ORDO/Orphanet_79399
generalised EBS
epidermolysis bullosa simplex, generalised
epidermolysis bullosa simplex, generalized intermediate
epidermolysis bullosa simplex, generalized non-Dowling-Meara
EBS, generalised
epidermolysis bullosa simplex, generalized
epidermolysis bullosa simplex, generalised non-Dowling-Meara
generalized EBS
EBS, generalized
epidermolysis bullosa simplex, generalised intermediate
EBS-K
https://github.com/monarch-initiative/mondo/issues/4499
https://github.com/monarch-initiative/mondo/issues/4521