ichthyosis
Findings
No curated finding names ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019269), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (3)
Other names
5 names
Resolves to: ichthyosis
- Also called
- disorder of cornificationDOCfish scale diseasefish skin diseaseichthyosis (disease)