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DO Term : autosomal recessive congenital ichthyosis 8 [DOID:0060717] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • late-onset lamellar ichthyosis,
  • OMIM:613943,
  • lamellar ichthyosis 4,
  • 613943,
  • ICD10CM:Q80.2,
  • ARCI8
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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