Terminology Service for NFDI4Health

ichthyosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019269


Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. [ http://www.ncbi.nlm.nih.gov/pubmed/22739337 ]

Term info

Label

ichthyosis

Synonyms
  • DOC
  • disorder of cornification
  • fish scale disease
  • fish skin disease
  • ichthyoses
  • ichthyosis
  • ichthyosis (disease)
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000589

ichthyosis (disease)

closeMatch

http://identifiers.org/meddra/10021198

comment

Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails.

exactMatch

http://purl.obolibrary.org/obo/DOID_1697, http://linkedlifedata.com/resource/umls/id/C0020757, http://identifiers.org/mesh/D007057, http://purl.obolibrary.org/obo/Orphanet_79354, http://purl.obolibrary.org/obo/NCIT_C84776

has related synonym

non-syndromic ichthyosis

id

MONDO:0019269

see also

https://github.com/monarch-initiative/mondo/issues/2114, https://github.com/monarch-initiative/mondo/pull/2110

Term relations

Subclass of: