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DO Term : autosomal recessive congenital ichthyosis 6 [DOID:0060715] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
  • synonyms:
  • OMIM:612281,
  • ARCI6,
  • ICD10CM:Q80.2,
  • 612281
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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