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DO Term : autosomal recessive congenital ichthyosis 14 [DOID:0080258] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
  • synonyms:
  • 617571,
  • OMIM:617571
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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