autosomal recessive congenital ichthyosis
MONDO:0017265Mondo
Findings
No curated finding names autosomal recessive congenital ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive form of inherited ichthyosis.
Definition from the Mondo Disease Ontology (MONDO:0017265), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- ABCA12HGNC:14637
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (13)
- acral self-healing collodion baby
- autosomal recessive congenital ichthyosis 1
- autosomal recessive congenital ichthyosis 11
- autosomal recessive congenital ichthyosis 4A
- autosomal recessive congenital ichthyosis 5
- autosomal recessive congenital ichthyosis 8
- bathing suit ichthyosis
- congenital non-bullous ichthyosiform erythroderma
- exfoliative ichthyosis
- ichthyosis, congenital, autosomal recessive 12
- ichthyosis, congenital, autosomal recessive 13
- ichthyosis, congenital, autosomal recessive 14
- self-healing collodion baby
Other names
4 names
Resolves to: autosomal recessive congenital ichthyosis
- Also called
- ARCIautosomal recessive inherited ichthyosisichthyosis, congenital, autosomal recessiveinherited ichthyosis, autosomal recessive