ichthyosis, congenital, autosomal recessive 12
MONDO:0015018Mondo
Findings
No curated finding names ichthyosis, congenital, autosomal recessive 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.
Definition from the Mondo Disease Ontology (MONDO:0015018), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- White scaling skinHPOHP:0040190
Where it sits
Other names
3 names
Resolves to: ichthyosis, congenital, autosomal recessive 12
- Also called
- ARCI12ichthyosis, congenital, autosomal recessive 12; ARCI12ichthyosis, congenital, autosomal recessive type 12