autosomal recessive congenital ichthyosis 3

Term ID

DOID:0060711

Synonyms

• ARCI3
• lamellar ichthyosis 5

Definition

An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (2)

References

• ICD10CM:Q80.2
• MIM:606545

Ontology

Human Disease   ( DOID:0060711 )