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epidermolytic ichthyosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0007239

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. [ Orphanet:312 ]

Synonyms: BCIE epidermolytic hyperkeratosis EI bullous ichthyosis ichthyosis hystrix Brocq type EHK bullous congenital ichthyosiform erythroderma epidermolytic palmoplantar hyperkeratosis bullous congenital ichthyosiform erythroderma of Brock epidermolytic ichthyosis

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1100 (MONDO:NORD)
  • OMIMPS:113800 (MONDO:equivalentTo)
  • SCTID:254167000 (MONDO:equivalentTo)
  • UMLS:C0079153 (MONDO:equivalentTo)
  • MEDGEN:38179 (MONDO:equivalentTo)
  • MESH:D017488 (MONDO:equivalentTo)
  • DOID:4603 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/7238

exactMatch

http://purl.obolibrary.org/obo/DOID_4603

http://identifiers.org/mesh/D017488

http://identifiers.org/medgen/38179

https://omim.org/phenotypicSeries/PS113800

http://linkedlifedata.com/resource/umls/id/C0079153

http://identifiers.org/snomedct/254167000

has narrow synonym

autosomal dominant epidermolytic ichthyosis

has related synonym

congenital bullous ichthyosiform erythroderma

bullous ichthyosiform erythroderma

bullous erythroderma Ichthyosiformis congenita of Brocq

bullous ichthyosiform erythroderma congenita

id

MONDO:0007239