ichthyosis
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
ichthyosis
- DOC
- disorder of cornification
- fish scale disease
- fish skin disease
- ichthyoses
- ichthyosis
- ichthyosis (disease)
disease_grouping, ordo_group_of_disorders
ichthyosis (disease)
http://identifiers.org/meddra/10021198
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.
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
non-syndromic ichthyosis
MONDO:0019269
https://github.com/monarch-initiative/mondo/issues/2114, https://github.com/monarch-initiative/mondo/pull/2110