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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.
Mondo Term and Equivalent IDs
MONDO:0019269:  ichthyosis
MESH:D007057: 
NCIT:C84776: 
Orphanet:79354: 
UMLS:C0020757: