autosomal recessive congenital ichthyosis 4A

Term ID

DOID:0060712

Synonyms

• ARCI4A
• ichthyosis congenita IIB
• ICR2B
• lamellar ichthyosis 2

Definition

An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (2)

References

• ICD10CM:Q80.2
• OMIM:601277

Ontology

Human Disease   ( DOID:0060712 )