ichthyosis (disease)

fish scale disease

fish skin disease

ichthyosis

ichthyoses

non-syndromic ichthyosis

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/MONDO_0019269

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.

MESH:D007057

UMLS:C0020757

HP:0008064

NCIT:C84776

DOID:1697

MedDRA:10021198

Orphanet:79354

http://www.orpha.net/ORDO/Orphanet_79354

http://identifiers.org/meddra/10021198

http://purl.obolibrary.org/obo/DOID_1697

http://purl.obolibrary.org/obo/NCIT_C84776

http://linkedlifedata.com/resource/umls/id/C0020757

http://linkedlifedata.com/resource/umls/id/C0020758

http://identifiers.org/mesh/D007057

fish scale disease

fish skin disease

ichthyosis

ichthyoses

non-syndromic ichthyosis

MONDO:0019269

http://purl.obolibrary.org/obo/mondo.owl

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

ichthyosis (disease)

MONDO:0019269

ichthyosis (disease)

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

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/MONDO_0019268