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ichthyosis
Disease Summary
Associated Targets (71)
Tbio
57
Tchem
13
Tclin
1
Mondo Description 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.
Disease Ontology Description A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:1697
MESH:D007057
NCIT:C84776
Orphanet:79354
UMLS:C0020757
MONDO:0019269
High level summary of knowledge for a disease, including descriptions and datasource references.