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DO Term : autosomal recessive congenital ichthyosis 4A [DOID:0060712] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICR2B,
  • ARCI4A,
  • ichthyosis congenita IIB,
  • 601277,
  • lamellar ichthyosis 2,
  • ICD10CM:Q80.2,
  • OMIM:601277
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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