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Human Disease

autosomal recessive congenital ichthyosis 2

Term ID
DOID:0060710
Synonyms
  • ARCI2
  • BROCQ congenital ichthyosiform erythroderma nonbullous form
  • NCIE1
  • nonbullous congenital ichthyosiform erythroderma 1
Definition
An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (2)
References
Ontology
Human Disease   ( DOID:0060710 )
Relationships
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Genes Involved
Zebrafish Models