JSON

superficial epidermolytic ichthyosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0007813

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. [ Orphanet:455 ]

Synonyms: ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis SEI bullous type ichthyosis

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2200990 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D053560 (Orphanet:455/e)
  • MEDGEN:98153 (MONDO:equivalentTo)
  • OMIM:146800 (Orphanet:455/e)
  • NANDO:1200613 (https://orcid.org/0000-0003-0011-764X)
  • DOID:0060877 (MONDO:equivalentTo)
  • UMLS:C0432306 (MONDO:equivalentTo)
  • SCTID:254169002 (MONDO:equivalentTo)
  • icd11.foundation:842172475 (MONDO:equivalentTo)
  • NCIT:C84777 (MONDO:equivalentTo)
  • GARD:2966 (MONDO:GARD)
  • Orphanet:455 (OMIM:146800)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, 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

abbreviation
IBS [ MONDO:Lexical ]

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/842172475

http://www.orpha.net/ORDO/Orphanet_455

http://identifiers.org/medgen/98153

http://purl.obolibrary.org/obo/DOID_0060877

http://identifiers.org/mesh/D053560

https://omim.org/entry/146800

http://linkedlifedata.com/resource/umls/id/C0432306

http://purl.obolibrary.org/obo/NCIT_C84777

http://identifiers.org/snomedct/254169002

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019269

has related synonym

IBS

ichthyosis, bullous type

bullous type of ichthyosis

ichthyosis exfoliativa

id

MONDO:0007813

seeAlso

https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens