autosomal recessive congenital ichthyosis 10

Term ID

DOID:0060719

Synonyms

• ARCI10

Definition

An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/22246504

References

• ICD10CM:Q80.2
• OMIM:615024

Ontology

Human Disease   ( DOID:0060719 )