autosomal recessive congenital ichthyosis 9

Term ID

DOID:0060718

Synonyms

• ARCI9

Definition

An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (2)

References

• ICD10CM:Q80.2
• OMIM:615023

Ontology

Human Disease   ( DOID:0060718 )