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Human Disease

autosomal recessive congenital ichthyosis 8

Term ID
DOID:0060717
Synonyms
  • ARCI8
  • lamellar ichthyosis 4
  • late-onset lamellar ichthyosis
Definition
An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/21439540
References
Ontology
Human Disease   ( DOID:0060717 )
Relationships
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Genes Involved
Zebrafish Models