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revise def for MONDO:0019269 ichthyosis (disease)
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nicolevasilevsky committed Oct 12, 2020
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6 changes: 5 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -365537,8 +365537,11 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x
[Term]
id: MONDO:0019269
name: ichthyosis (disease)
def: "A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe." [NCIT:C84776]
def: "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]
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. {xref="PMID:23792051"}
subset: ordo_group_of_disorders {source="Orphanet:79354"}
synonym: "fish scale disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "fish skin disease" EXACT [https://orcid.org/0000-0002-0736-9199]
synonym: "ichthyoses" EXACT [DOID:1697]
synonym: "ichthyosis" EXACT [MONDO:ambiguous]
synonym: "non-syndromic ichthyosis" RELATED [DOID:1697]
Expand All @@ -365551,6 +365554,7 @@ xref: Orphanet:79354 {source="MONDO:equivalentTo", source="DOID:1697"}
xref: UMLS:C0020757 {source="NCIT:C84776", source="MONDO:equivalentTo", source="ORDO:79354/e", source="Orphanet:79354"}
xref: UMLS:C0020758 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:79354/e", source="Orphanet:79354"}
is_a: MONDO:0019268 {source="Orphanet:79354"} ! epidermal disease
property_value: seeAlso https://github.com/monarch-initiative/mondo/pull/2110 xsd:string

[Term]
id: MONDO:0019270
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