OBO ID: DOID:0060718
Term Name: autosomal recessive congenital ichthyosis 9 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060718 )
OTHER autosomal recessive congenital ichthyosis 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CERS3 Ichthyosis, congenital, autosomal recessive 9 615023
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None