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Human Disease

autosomal recessive congenital ichthyosis 4A

Term ID
DOID:0060712
Synonyms
  • ARCI4A
  • ichthyosis congenita IIB
  • ICR2B
  • lamellar ichthyosis 2
Definition
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (2)
References
Ontology
Human Disease   ( DOID:0060712 )
Relationships
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Genes Involved
Zebrafish Models