autosomal recessive congenital ichthyosis 7

Term ID

DOID:0060716

Synonyms

• ARCI7

Definition

An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. https://www.ncbi.nlm.nih.gov/pubmed/16117785

References

• ICD10CM:Q80.2
• OMIM:615022

Ontology

Human Disease   ( DOID:0060716 )