Terminology Service for NFDI4Health
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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. [ ]

Term info

Label

epidermolytic ichthyosis

Synonyms
  • BCIE
  • EHK
  • EI
  • bullous congenital ichthyosiform erythroderma
  • bullous congenital ichthyosiform erythroderma of Brock
  • bullous ichthyosis
  • epidermolytic hyperkeratosis
  • epidermolytic ichthyosis
  • epidermolytic palmoplantar hyperkeratosis
  • ichthyosis hystrix Brocq type
database cross reference
Subsets

ordo_disease

comment

Editor note: check this. Should there be a generic form as well as AD form? Form for each gene?

exactMatch

http://purl.obolibrary.org/obo/Orphanet_312, http://purl.obolibrary.org/obo/DOID_4603, http://identifiers.org/mesh/D017488, http://purl.obolibrary.org/obo/NCIT_C62569, http://identifiers.org/snomedct/254167000, https://omim.org/entry/113800

has narrow synonym

autosomal dominant epidermolytic ichthyosis

has related synonym

congenital bullous ichthyosiform erythroderma, bullous ichthyosiform erythroderma, epidermolytic hyperkeratosis, late-onset, bullous erythroderma Ichthyosiformis congenita of Brocq, bullous ichthyosiform erythroderma congenita

id

MONDO:0007239

Term relations