autosomal recessive congenital ichthyosis 5

Term ID

DOID:0060714

Synonyms

• ARCI5
• autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis

Definition

An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (2)

References

• ICD10CM:Q80.2
• OMIM:604777

Ontology

Human Disease   ( DOID:0060714 )