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DO Term : autosomal recessive congenital ichthyosis 2 [DOID:0060710] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • NCIE1,
  • 242100,
  • OMIM:242100,
  • BROCQ congenital ichthyosiform erythroderma nonbullous form,
  • ICD10CM:Q80.2,
  • nonbullous congenital ichthyosiform erythroderma 1,
  • ARCI2
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents