ichthyosis
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. [ PMID:22739337 ]
Term info
- DOID:1697 (MONDO:equivalentTo)
- NCIT:C84776 (MONDO:equivalentTo)
- Orphanet:79354 (MONDO:equivalentTo)
- MedDRA:10021198 (Orphanet:79354/e)
- UMLS:C0020757 (Orphanet:79354/e)
- MESH:D007057 (Orphanet:79354/e)
- HP:0008064 (MONDO:otherHierarchy)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/2114, https://github.com/monarch-initiative/mondo/pull/2110
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.
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://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
ichthyoses, fish scale disease, DOC, disorder of cornification, ichthyosis, fish skin disease, ichthyosis (disease)
non-syndromic ichthyosis
MONDO:0019269